GROWTH

MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HETEROTAXY, VISCERAL, 5, OSTEOGLOPHONIC DYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OSTEOGENESIS IMPERFECTA, TYPE IV, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OSTEOGENESIS IMPERFECTA, TYPE III, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OSTEOGENESIS IMPERFECTA, TYPE II, SHORT SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, MYHRE SYNDROME, BRACHYDACTYLY, TYPE A1, C, TARSAL-CARPAL COALITION SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, CAMURATI-ENGELMANN DISEASE, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CHONDRODYSPLASIA, GREBE TYPE, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LOEYS-DIETZ SYNDROME 2, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, RUBINSTEIN-TAYBI SYNDROME, LOEYS-DIETZ SYNDROME 1, DIAPHANOSPONDYLODYSOSTOSIS, PROTEUS SYNDROME, SOMATIC

SOX9, TGFBR1, FGFR1, NODAL, COL1A1, SMAD4, ALB, SMAD9, BMPR1A, TGFB3, DVL1, TGFB1, PPARG, PPP2R1A, LHX3, AKT1, DDX58, NOG, PCNA, GDF5, PTEN, EGFR, BMPER, TGFBR2, CREBBP, BMPR1B, ESR1, CFTR, SHH, RUNX2, SF3B4, GSC, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE II, HETEROTAXY, VISCERAL, 5, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MELNICK-NEEDLES SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, SADDAN, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CRANIOFRONTONASAL DYSPLASIA, CATSHL SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, FUHRMANN SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BRACHYDACTYLY, TYPE A1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SERKAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OCULOECTODERMAL SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CORNELIA DE LANGE SYNDROME 1, HYPOCHONDROPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYHRE SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ULNAR-MAMMARY SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, ESTROGEN RESISTANCE, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOGENESIS IMPERFECTA, TYPE XV, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, APERT SYNDROME, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

FGFR2, HESX1, IHH, FLNA, FGFR3, SMARCA4, NODAL, NRAS, MAP2K2, NKX2-5, CREBBP, DVL3, PIK3R2, WNT5A, SMAD9, TWIST1, NOTCH1, JAK3, DVL1, TBX3, KAT6A, MTOR, FGFR1, ESR1, OTX2, PIK3CA, BMPR1A, LHX3, WNT7A, AKT1, SOX2, VDR, KMT2A, BRCA1, IGF1R, LIFR, SMAD4, WNT1, AKT2, ROR2, ZIC3, TGFBR1, GSC, GLI3, PTEN, HRAS, COL1A2, EGFR, EZH2, WNT4, KRAS, EFNB1, PORCN, MUSK, NR0B2, IGF1, BMPR1B, STAT3, SHH, DLX5, RUNX2, SF3B4, PDGFRB, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, PSEUDOHYPOALDOSTERONISM, TYPE I, IMMUNODEFICIENCY 15, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, FANCONI ANEMIA, COMPLEMENTATION GROUP A, OSTEOGLOPHONIC DYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, CLOVE SYNDROME, SOMATIC, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, SHORT SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE IA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PHELAN-MCDERMID SYNDROME, MYHRE SYNDROME, NOONAN SYNDROME 9, COFFIN-SIRIS SYNDROME 3, OMENN SYNDROME, NOONAN SYNDROME 7, CARDIOFACIOCUTANEOUS SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, PARKINSON DISEASE 4, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LEOPARD SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, CORNELIA DE LANGE SYNDROME 1, LOEYS-DIETZ SYNDROME 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, RABSON-MENDENHALL SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MEIER-GORLIN SYNDROME 5, RETT SYNDROME, CONGENITAL VARIANT, ATAXIA-TELANGIECTASIA, RUBINSTEIN-TAYBI SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPERPARATHYROIDISM, NEONATAL, WIEDEMANN-STEINER SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

GRM1, NRAS, RAG1, FGFR1, IL7R, SCNN1G, SMAD4, PTEN, SCNN1A, AR, FOXG1, TGFB1, G6PC, NOS3, ATM, CREBBP, TGFB3, IL6, CASR, AGT, MTOR, PPARG, SHANK3, PRKACA, PCNA, INSR, NOTCH1, AKT2, ALB, CDC6, SMARCA4, G6PC3, SOS1, ESR1, KMT2A, BRCA1, PLK4, IGF1R, EGFR, CASP8, INS, IKBKB, MAP2K2, TGFBR1, PIK3CA, AKT1, SMARCB1, ITCH, SNCA, KRAS, TGFBR2, IGF1, POMC, STAT3, CFTR, SOS2, BRAF, PTPN11, HRAS, PIK3R2, RAG2, PIK3R1

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ANDROGEN INSENSITIVITY, COFFIN-SIRIS SYNDROME 3, LEOPARD SYNDROME 1, HYPERTHYROIDISM, NONAUTOIMMUNE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, COFFIN-SIRIS SYNDROME 4, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?IMMUNODEFICIENCY 22

LCK, TSHR, STAT1, IL6, DNMT3B, SMARCB1, HLA-DRB1, RFX5, HLA-DQB1, LEP, RFXANK, PTPN11, AR, RFXAP, CIITA, SMARCA4, TRAC, HLA-DQA1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, IMMUNODEFICIENCY 15, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, HETEROTAXY, VISCERAL, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, PSEUDOACHONDROPLASIA, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, CZECH DYSPLASIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WEISSENBACHER-ZWEYMULLER SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, COLE-CARPENTER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, CAMURATI-ENGELMANN DISEASE, METATROPIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, LEOPARD SYNDROME 3, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, HYPOPHOSPHATASIA, INFANTILE, PARASTREMMATIC DWARFISM, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, ?STEEL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, SADDAN, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, COFFIN-LOWRY SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP A, OSTEOGENESIS IMPERFECTA, TYPE IV, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, NEPHRONOPHTHISIS 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MEIER-GORLIN SYNDROME 5, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, SECKEL SYNDROME 1, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, BRACHYDACTYLY, TYPE A1, C, BOHRING-OPITZ SYNDROME, CATSHL SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HYPERPARATHYROIDISM, NEONATAL, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NOONAN SYNDROME 9, SHORT SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, FUHRMANN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, ARTHROGRYPOSIS, DISTAL, TYPE 8, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, MYHRE SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OPSISMODYSPLASIA, DYSAUTONOMIA, FAMILIAL, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BRACHYDACTYLY, TYPE A1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PARKINSON DISEASE 4, CULLER-JONES SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, PANHYPOPITUITARISM, X-LINKED, HYPOMAGNESEMIA 3, RENAL, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ?BARDET-BIEDL SYNDROME 11, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, OCULOECTODERMAL SYNDROME, ATAXIA-TELANGIECTASIA, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, STICKLER SYNDROME, TYPE II, NEPHROTIC SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, ?MYOSCLEROSIS, CONGENITAL, ALAGILLE SYNDROME, SED CONGENITA, WIEDEMANN-STEINER SYNDROME, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, TARSAL-CARPAL COALITION SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 6, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, APERT SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, OGDEN SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CORNELIA DE LANGE SYNDROME 1, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, EHLERS-DANLOS SYNDROME, TYPE IV, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LOEYS-DIETZ SYNDROME 1, ?PRECOCIOUS PUBERTY, CENTRAL, 1, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, SPONDYLOCOSTAL DYSOSTOSIS 5, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, BOOMERANG DYSPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ABCD SYNDROME, ULNAR-MAMMARY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, ACROMICRIC DYSPLASIA, NOONAN SYNDROME 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOGENESIS IMPERFECTA, TYPE XV, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, CHONDRODYSPLASIA, GREBE TYPE, MARFAN LIPODYSTROPHY SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, XERODERMA PIGMENTOSUM, GROUP B, ?MICROPHTHALMIA, SYNDROMIC 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, BRACHYOLMIA TYPE 3, GELEOPHYSIC DYSPLASIA 2, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, WEILL-MARCHESANI SYNDROME 2, DOMINANT, PREMATURE AGING SYNDROME, PENTTINEN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MARSHALL SYNDROME, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CA2, IHH, GJB6, PLOD3, WNT5A, ADRB2, NAA10, PRKACA, ACTB, GNAS, IKBKG, TWIST1, COL3A1, SMARCA4, KLF1, ALPL, TBX3, AGT, COL11A2, P4HB, COL5A1, OTX2, KDM1A, NPHP4, CDC6, GJA1, BTK, KMT2A, LHX3, NOG, IKBKAP, COL1A1, TRIM32, PIK3CA, SOS1, NOTCH1, PIP5K1C, JAG1, PDGFRB, SMAD4, CREBBP, COL2A1, COL10A1, MUSK, ACTA1, WNT7A, COL6A2, ACAN, FGFR3, KRAS, GLI2, MAP2K2, NKX2-5, AR, IGF2, IGBP1, NOS3, ERCC3, MTOR, FGFR1, SOX3, COL1A2, AKT2, TALDO1, BMPR1A, CBL, TUBB4A, MMP13, COMP, SPARC, NRAS, ZIC3, DVL1, WNT1, TGFBR1, TAF1, ROR2, EZH2, NOTCH3, TNNT2, SF3B4, GSC, GDF5, DNM2, CLDN16, RPS6KA3, STAT3, BRAF, INS, KAT6A, COL7A1, KCNJ11, SHH, DDR2, SOX9, IGF1, DVL3, SMAD9, CTCF, RAPSN, LRP5, CASR, LAMA3, LAMB3, GNA11, PPP2R1A, EDNRB, PLK4, VPS11, PTHLH, AKT1, SOX2, ITPR2, VDR, BRCA1, IGF1R, MUT, DIAPH1, NPHS1, EGFR, FBN1, IKBKB, PTS, COL27A1, GLI3, KISS1R, SNCA, PEX13, EFNB1, PTEN, TRPV4, LZTR1, POMC, SNAP29, INPPL1, DLX5, COL6A3, RUNX2, PRKDC, HESX1, LAMC2, FLNA, NR0B2, DYRK1A, NODAL, MYH7, PPP2R5D, TBX6, ALB, ASXL1, MYH3, TGFB1, PIK3R2, PTPN11, ATM, SOS2, JAK3, CFTR, COL11A1, BMPR1B, CASK, NEB, MAP3K1, PCNA, INSR, COL5A2, COL6A1, SERPINH1, FGFR2, IL6, LIFR, GATA6, MYH8, L1CAM, HCFC1, RET, GRM1, FLNB, HRAS, LRP2, WNT4, OCLN, MYH11, ATR, HSPG2, ESR1, TGFBR2, MTRR, PORCN, PIK3R1

MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, LEUKODYSTROPHY, HYPOMYELINATING, 3, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, INTERSTITIAL LUNG AND LIVER DISEASE, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, MYHRE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8

YARS2, AARS, RARS2, IARS2, EARS2, CARS2, FARS2, AIMP1, MTFMT, LARS, POLG, SMAD4, SARS2, AARS2, MARS2, NARS2, MARS, CPS1

BEARE-STEVENSON CUTIS GYRATA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, CAMURATI-ENGELMANN DISEASE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, LEPRECHAUNISM, ACHONDROPLASIA, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SHORT SYNDROME, CLOVE SYNDROME, SOMATIC, NOONAN SYNDROME 7, CARDIOFACIOCUTANEOUS SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LEOPARD SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, APERT SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, RABSON-MENDENHALL SYNDROME, CATSHL SYNDROME, HYPOCHONDROPLASIA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SADDAN, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

SOX9, FGFR3, KRAS, NRAS, MAP2K2, IGF1, PIK3R2, TGFB1, NOTCH1, PPARG, LEP, MTOR, FGFR1, ESR1, INSR, NOS3, AKT2, AKT1, FGFR2, FGF23, IGF1R, PCNA, PIK3CA, HRAS, EGFR, PDGFRB, NR0B2, STAT3, PIK3R1, BRAF, PTEN, SHH

CLOVE SYNDROME, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, KOSAKI OVERGROWTH SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, KOWARSKI SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HAJDU-CHENEY SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, AYME-GRIPP SYNDROME, SELECTIVE T-CELL DEFECT, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, NOONAN SYNDROME 9, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ESTROGEN RESISTANCE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, CAMURATI-ENGELMANN DISEASE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, GROWTH HORMONE INSENSITIVITY, PARTIAL, LARON DWARFISM, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ATELEIOTIC DWARFISM, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?IMMUNODEFICIENCY 22, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

GATA1, LCK, IRF8, GH1, IL7R, SMAD4, PRF1, PIK3R2, TGFB1, BMPR1A, STAT1, AGT, IL21, ESR1, LEP, NOS3, AKT2, AKT1, GJA1, BTK, CBL, CREBBP, IL6, PIK3R1, LIFR, IL21R, JAK3, INS, PCNA, PTPN11, PIK3CA, SOS1, HRAS, EGFR, PDGFRB, ZAP70, IGF1, NOTCH2, MAF, STAT3, GHR, NOTCH1, IL2RG, RUNX2, MTOR, SOS2

REVESZ SYNDROME, BARAITSER-WINTER SYNDROME 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, CAMURATI-ENGELMANN DISEASE, TYROSINEMIA, TYPE I, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTH SYNDROME, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, GLUTARICACIDURIA, TYPE I, D-BIFUNCTIONAL PROTEIN DEFICIENCY, HYPERCALCEMIA, INFANTILE, HUTCHINSON-GILFORD PROGERIA, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, FARBER LIPOGRANULOMATOSIS, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, MANDIBULOACRAL DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, SMITH-LEMLI-OPITZ SYNDROME, OROTIC ACIDURIA, ATAXIA-TELANGIECTASIA, MEND SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, DESMOSTEROLOSIS, INCONTINENTIA PIGMENTI, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, CK SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, DIAMOND-BLACKFAN ANEMIA 9, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, FANCONI RENOTUBULAR SYNDROME 2, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, STRIATONIGRAL DEGENERATION, INFANTILE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, ACETYL-COA CARBOXYLASE DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CORTISONE REDUCTASE DEFICIENCY 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, PERRAULT SYNDROME 1, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, KLEEFSTRA SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, VITAMIN D-DEPENDENT RICKETS, TYPE I, GM1-GANGLIOSIDOSIS, TYPE I, GALACTOSE EPIMERASE DEFICIENCY, OCULOECTODERMAL SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, OLIVER-MCFARLANE SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, ?LAURENCE-MOON SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?FANCONI RENOTUBULAR SYNDROME 3, GLYCEROL KINASE DEFICIENCY, CLOVE SYNDROME, SOMATIC, NIEMANN-PICK DISEASE, TYPE A, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, ESTROGEN RESISTANCE, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, MARINESCO-SJOGREN SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, SENGERS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CHILD SYNDROME, CORNELIA DE LANGE SYNDROME 5, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, HYPERTHYROIDISM, NONAUTOIMMUNE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, APPARENT MINERALOCORTICOID EXCESS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KRABBE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, WILSON-TURNER SYNDROME, MENTAL RETARDATION, X-LINKED 72, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, INFANTILE CEREBELLAR-RETINAL DEGENERATION, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, WATSON SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, GM1-GANGLIOSIDOSIS, TYPE III, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, PANCREATIC LIPASE DEFICIENCY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, ?DIARRHEA 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, GAUCHER DISEASE, TYPE II, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, SJOGREN-LARSSON SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

SLC34A1, FANCM, ASAH1, LMNA, COL1A1, ACADS, ACTB, IKBKG, RPL5, CYP11B2, ALDOA, AGT, PPARG, RAB39B, PTDSS1, PCYT1A, NSDHL, GJA1, GLYCTK, MYH7, HADH, ARSB, PNPLA2, AGK, PIK3CA, ARSE, POR, CYP7B1, HSD11B1, UMPS, PEX5, CYP2R1, VLDLR, KRAS, CBL, CASP8, EGFR, AR, NOS3, SMAD9, MTOR, AMACR, LEP, AKT2, MSMO1, CYP11B1, HADHA, GK, NR1I3, GNPAT, ADAMTS10, EBP, ELOVL4, HNF4A, FANCC, NEU1, GCDH, RPS10, TAZ, FANCA, GPD1, FGF23, CYP24A1, PNPLA6, NUBPL, INS, AKR1D1, GLB1, AGL, SMPD1, NUP62, KRT5, CBS, CYP27B1, MCPH1, BCS1L, PPP2R1A, ALDH3A2, BRCA1, AKT1, SMARCA4, GALE, VDR, ACACA, MRPL3, HSD11B2, TINF2, LIPA, AGPS, GALC, TERT, TSHR, SIL1, NF1, ECHS1, POMC, DDOST, STAT3, FAH, SSR4, JAGN1, CYP21A2, HDAC8, HCCS, HSD17B4, DHCR7, TGFB1, ATM, HADHB, PEX7, MT-CO2, DHCR24, HSD3B7, IL6, GBA, EHHADH, GLA, GPX4, PCNA, TRH, PEX19, HRAS, ACO2, DGAT1, AGPAT2, ALB, HSPG2, ESR1, PNLIP, C10orf2, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY, PROPIONICACIDEMIA, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, OROTIC ACIDURIA, GALACTOSE EPIMERASE DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, METHYLMALONYL-COA EPIMERASE DEFICIENCY, GABA-TRANSAMINASE DEFICIENCY, ACETYL-COA CARBOXYLASE DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, TYROSINEMIA, TYPE II, ?FANCONI RENOTUBULAR SYNDROME 3, SJOGREN-LARSSON SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY

TAT, ACADS, NOS3, PCCB, MT-CO2, ALDH3A2, PCCA, MCCC2, GALE, HADHB, ACACA, HADH, MUT, EHHADH, MCEE, MCCC1, HADHA, ECHS1, AUH, UMPS, CPS1, INS, ABAT

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, HYPOPHOSPHATASIA, INFANTILE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?LICHTENSTEIN-KNORR SYNDROME, MULTIPLE SULFATASE DEFICIENCY, CZECH DYSPLASIA, BARTTER SYNDROME, TYPE 2, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ?STICKLER SYNDROME, TYPE V, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ACRODERMATITIS ENTEROPATHICA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, FANCONI RENOTUBULAR SYNDROME 2, STICKLER SYNDROME, TYPE I, CAMURATI-ENGELMANN DISEASE, METATROPIC DYSPLASIA, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OTOPALATODIGITAL SYNDROME, TYPE II, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, ?STEEL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, BILE ACID MALABSORPTION, PRIMARY, PSEUDOHYPOPARATHYROIDISM IA, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, RENAL CYSTS AND DIABETES SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LEPRECHAUNISM, FOLATE MALABSORPTION, HEREDITARY, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, TRANSCOBALAMIN II DEFICIENCY, MICROVILLUS INCLUSION DISEASE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, MENTAL RETARDATION, X-LINKED 102, GLUCOSE/GALACTOSE MALABSORPTION, {METABOLIC SYNDROME, PROTECTION AGAINST}, RUBINSTEIN-TAYBI SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, NOONAN SYNDROME 9, BRUCK SYNDROME 2, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, FUHRMANN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, HARTNUP DISORDER, STICKLER SYNDROME, TYPE II, ACETYL-COA CARBOXYLASE DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, OSTEOGENESIS IMPERFECTA, TYPE I, PANCREATIC AGENESIS 1, COLE-CARPENTER SYNDROME 1, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, KLEEFSTRA SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, NOONAN SYNDROME 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE IA, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?MYOSCLEROSIS, CONGENITAL, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, ANDERSEN SYNDROME, GLYCOGEN STORAGE DISEASE IC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, PARASTREMMATIC DWARFISM, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SED CONGENITA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, RABSON-MENDENHALL SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, TRYPSINOGEN DEFICIENCY, MENKES DISEASE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, EIKEN SYNDROME, ABCD SYNDROME, 3MC SYNDROME 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, AGAMMAGLOBULINEMIA 3, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LEGG-CALVE-PERTHES DISEASE, BANNAYAN-RILEY-RUVALCABA SYNDROME, PANCREATIC LIPASE DEFICIENCY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?DIARRHEA 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, BRACHYOLMIA TYPE 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MARSHALL SYNDROME, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CA2, SLC34A1, PDE4D, ADRB2, ACTB, NALCN, GNAS, CIITA, PIK3CA, COL3A1, KLF1, ALPL, AGT, COL11A2, PPARG, COL5A1, PTHLH, PCYT1A, UBE2A, G6PC3, COL6A1, COL1A1, COL10A1, G6PC, NOTCH1, EFEMP2, SLC4A4, CREBBP, COL2A1, SLC6A19, PRSS1, WNT7A, VLDLR, SMARCA4, EGFR, POMC, COL6A2, SLC39A4, CD79A, NOS3, KCNJ1, RYR1, EPHX1, KCNJ10, LEP, COL9A2, AKT2, KIF5C, CBL, NR1I3, PTH1R, TGFBR1, CASR, SLC7A7, FGF23, PCNA, ADRB3, STAT3, DDR2, SLC26A3, COL7A1, DDX3X, SLC2A2, SOX9, HNF1B, IGF1, DVL3, TCN2, CTCF, STAT1, SLC2A1, SLC19A2, GJA1, MYO5B, HNF4A, PPP2R1A, HRAS, AKT1, ITPR2, VDR, ACACA, MRPL3, IGF1R, MTTP, SLC5A1, UBE3A, LRP2, ATP5A1, COL27A1, COL1A2, MMACHC, SNCA, SLC37A4, DNAJC3, PTEN, TRPV4, ABCB11, BTK, LMBRD1, COL6A3, SUMF1, LCK, SSR4, FLNA, NR0B2, SLC9A1, MASP1, PPIB, SLC46A1, PIK3R2, TGFB1, P4HB, PTPN11, ATM, SOS2, CFTR, ATP7A, COL11A1, PRKACA, INSR, COL5A2, COL9A3, SOS1, IL6, INS, PLOD2, TRH, GRM1, KCNJ2, EDNRB, LIPA, SLC10A2, DGAT1, ADA, PDX1, AGPAT2, MYH11, ALB, HSPG2, ESR1, PNLIP, MTOR, PIK3R1

LOEYS-DIETZ SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE I, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, CZECH DYSPLASIA, CAMURATI-ENGELMANN DISEASE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, PSEUDOACHONDROPLASIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OTOPALATODIGITAL SYNDROME, TYPE II, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ANDROGEN INSENSITIVITY, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, OTOPALATODIGITAL SYNDROME, TYPE I, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, MELNICK-NEEDLES SYNDROME, ?MYOSCLEROSIS, CONGENITAL, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, STICKLER SYNDROME, TYPE I, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OSTEOGENESIS IMPERFECTA, TYPE IV, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, LEGG-CALVE-PERTHES DISEASE, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?STEEL SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, PROTEUS SYNDROME, SOMATIC, MARSHALL SYNDROME

SOX9, TGFBR1, ACAN, DDR2, COL1A1, AR, TGFB1, COL5A2, FLNA, LAMC2, COL11A1, COL11A2, PPARG, COL5A1, COL3A1, COL6A3, AKT1, COL6A1, PIK3R1, COMP, COL27A1, COL1A2, SERPINH1, COL6A2, HSPG2, LAMA3, COL7A1, COL2A1, RUNX2, LAMB3, SHH

EXOSTOSES, MULTIPLE, TYPE 1, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE III, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, OSTEOGENESIS IMPERFECTA, TYPE I, OSTEOGLOPHONIC DYSPLASIA, COLE-CARPENTER SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PETERS-PLUS SYNDROME, CAMURATI-ENGELMANN DISEASE, ASPARTYLGLUCOSAMINURIA, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, KLEEFSTRA SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, TRICHOHEPATOENTERIC SYNDROME 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, NESTOR-GUILLERMO PROGERIA SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, MUCOPOLYSACCHARIDOSIS, MPS-III-A, OSTEOGENESIS IMPERFECTA, TYPE II, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, MUCOPOLYSACCHARIDOSIS IH/S, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, AMISH INFANTILE EPILEPSY SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIAMOND-BLACKFAN ANEMIA 6, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, HAJDU-CHENEY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), SPONDYLOOCULAR SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MUCOPOLYSACCHARIDOSIS IH, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, OSTEOGENESIS IMPERFECTA, TYPE IV, EXOSTOSES, MULTIPLE, TYPE 2, GM1-GANGLIOSIDOSIS, TYPE III, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GAUCHER DISEASE, TYPE III, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), OCULOECTODERMAL SYNDROME, DESBUQUOIS DYSPLASIA 2, MUCOPOLYSACCHARIDOSIS TYPE IIID, CHIME SYNDROME, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, FUCOSIDOSIS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MUCOPOLYSACCHARIDOSIS II, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, GAUCHER DISEASE, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, GAUCHER DISEASE, PERINATAL LETHAL, MUCOPOLYSACCHARIDOSIS IVA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, PROTEUS SYNDROME, SOMATIC

CHST3, BANF1, DPM1, ACAN, NDST1, KRAS, MAN1B1, COL1A1, SDHD, XYLT2, XYLT1, NOTCH1, EXT1, GPC3, FUCA1, PIGL, GNS, B3GAT3, HYAL1, PIGO, RPL5, PIGN, MAN2B1, B3GLCT, MGAT2, PIGT, IDS, TGFB1, PLOD3, PIGG, ALG3, STT3B, GALNS, DNAJC3, AKT1, IDUA, STT3A, FGFR1, NR1I3, GLB1, GBA, P4HB, ALG1, GLA, ST3GAL5, SDC3, PGAP1, IL6, AGA, HRAS, SGSH, DOLK, GUSB, PIGA, B3GALT6, FGF23, PIGY, NOTCH2, HSPG2, NEU1, EXT2, DDOST, ARSB, HGSNAT, CHST14, INS, B4GALT7, SKIV2L

BARAITSER-WINTER SYNDROME 1, CAMURATI-ENGELMANN DISEASE, PSEUDOACHONDROPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, ATELOSTEOGENESIS, TYPE I, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?STEEL SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CZECH DYSPLASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, LARSEN SYNDROME, BOOMERANG DYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NOONAN SYNDROME 9, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE I, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ?BARDET-BIEDL SYNDROME 11, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?MYOSCLEROSIS, CONGENITAL, PROTEUS SYNDROME, SOMATIC, SED CONGENITA, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ABCD SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, NOONAN SYNDROME 7, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LEGG-CALVE-PERTHES DISEASE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SMITH-KINGSMORE SYNDROME, MARSHALL SYNDROME

SOX9, COL10A1, ACAN, TAF1, SHH, GJA1, COL1A1, SERPINH1, BRAF, IGF1, NOTCH1, COL5A2, COL6A2, PIK3R2, TGFB1, IGF2, COL3A1, INSR, FLNA, SOS2, PIP5K1C, PDGFRB, LAMC2, COL6A1, AGT, COL11A2, NEB, NOS3, IGBP1, HRAS, AKT2, MTOR, VPS11, AKT1, TNNT2, SOS1, PRKDC, ESR1, CBL, COL27A1, COL6A3, IGF1R, MUT, DIAPH1, LRP2, SPARC, TGFBR1, ADRB2, TRIM32, IL6, PIK3CA, COL5A1, MTRR, EDNRB, COL1A2, EGFR, SNCA, TGFBR2, EFNB1, ACTB, PTEN, MYH11, MUSK, ALB, COMP, HSPG2, COL11A1, STAT3, DDR2, PIK3R1, COL2A1, INS, FLNB, LAMB3, COL7A1, LAMA3

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, LEOPARD SYNDROME 1

HLA-DQB1, IGF1R, HLA-DRB1, PTPN11, HLA-DQA1, TRAC

OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, BARAITSER-WINTER SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MACROCEPHALY/AUTISM SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, BANNAYAN-RILEY-RUVALCABA SYNDROME, CLOVE SYNDROME, SOMATIC, ?DYSTONIA, JUVENILE-ONSET, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SHORT SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}

RPL5, ACTB, PTEN, HLA-DRB1, CASP8, POMC, HLA-DQB1, MYH7, PRF1, SOX9, HLA-DQA1, PIK3CA, PIK3R1

MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ?LICHTENSTEIN-KNORR SYNDROME, KLEEFSTRA SYNDROME, NOONAN SYNDROME 4, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, BRACHYDACTYLY, TYPE E2, RUBINSTEIN-TAYBI SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, GLUCOSE/GALACTOSE MALABSORPTION, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, BILE ACID MALABSORPTION, PRIMARY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, RENAL CYSTS AND DIABETES SYNDROME, PROTEUS SYNDROME, SOMATIC

CA2, SSR4, SLC2A1, PPARG, SLC9A1, HNF1B, HNF4A, GNAS, IGF1R, EPHX1, PRKACA, PPP2R1A, PTHLH, POMC, ALB, SOS1, NR1I3, SLC5A1, ADRB2, IL6, AKT1, SLC10A2, SLC4A4, NR0B2, CREBBP, ABCB11, CFTR, INS, PIK3R1

CLOVE SYNDROME, SOMATIC, SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, RABSON-MENDENHALL SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, APPARENT MINERALOCORTICOID EXCESS, NEUROFIBROMATOSIS-NOONAN SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, WATSON SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, LEPRECHAUNISM, BARTTER SYNDROME, TYPE 2, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, OCULOECTODERMAL SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

NF1, KRAS, KCNJ1, MTOR, STAT3, SCNN1G, SCNN1A, IGF1, HNF1B, HSD11B2, INS, SCNN1B, PIK3CA, PIK3R2, NR3C2, AKT1, PIK3R1, INSR

FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, CAMURATI-ENGELMANN DISEASE, KLEEFSTRA SYNDROME, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WATSON SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, NEUROFIBROMATOSIS-NOONAN SYNDROME, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, APPARENT MINERALOCORTICOID EXCESS, CORTISONE REDUCTASE DEFICIENCY 2, PROTEUS SYNDROME, SOMATIC

POMC, TGFB1, CYP11B2, IL6, PPARG, HNF4A, LEP, HSD11B2, MSMO1, VDR, MRPL3, NR1I3, NR0B1, CYP11B1, AKT1, TERT, POR, NF1, CYP21A2, CYP7B1, ALB, HSD11B1, ESR1, INS, AKR1D1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ?PRECOCIOUS PUBERTY, CENTRAL, 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY 15, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IC, OSTEOGLOPHONIC DYSPLASIA, CAMURATI-ENGELMANN DISEASE, LOEYS-DIETZ SYNDROME 5, INCONTINENTIA PIGMENTI, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, CLOVE SYNDROME, SOMATIC, IMMUNODEFICIENCY 19, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LOEYS-DIETZ SYNDROME 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MEIER-GORLIN SYNDROME 5, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IA, LOEYS-DIETZ SYNDROME 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

LCK, GNA11, GJA1, CASP8, PIK3R2, AKT1, IKBKG, GNAS, NOS3, ATM, STAT1, TGFB3, CD3G, TGFB1, MTOR, FGFR1, STAT3, PPP2R1A, INSR, PTPN11, AKT2, CDC6, CD3D, BTK, CBL, IL6, IKBKB, PROK2, TGFBR1, PIK3CA, KISS1R, PRF1, TGFBR2, IRF8, POMC, ESR1, CFTR, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ATAXIA-TELANGIECTASIA, AYME-GRIPP SYNDROME, PARKINSON DISEASE 4, COLE-CARPENTER SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CAMURATI-ENGELMANN DISEASE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, LOEYS-DIETZ SYNDROME 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 4, CZECH DYSPLASIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OSTEOGENESIS IMPERFECTA, TYPE II, SHORT SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, STICKLER SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SMED STRUDWICK TYPE, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, KNIEST DYSPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, STICKLER SYNDROME, TYPE I, SMITH-KINGSMORE SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, OSTEOGENESIS IMPERFECTA, TYPE IV, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, PYCNODYSOSTOSIS, LOEYS-DIETZ SYNDROME 5, LEGG-CALVE-PERTHES DISEASE, NOONAN SYNDROME 9, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IA, ?STEEL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE XVII, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ARGININEMIA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, EHLERS-DANLOS SYNDROME, TYPE IV, WEISSENBACHER-ZWEYMULLER SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, FIBROCHONDROGENESIS 1, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MARSHALL SYNDROME

ACTA1, SOX9, TGFBR1, GJA1, COL1A1, IGF1, COL5A1, COL5A2, PIK3R2, TGFB1, IGF2, COL3A1, ATM, SOS2, HLA-DRB1, TGFB3, CFTR, LAMC2, COL11A1, COL11A2, GNA11, P4HB, PRKACA, COL7A1, LEP, NOS3, MTOR, AKT1, DDR2, PRKDC, MAF, CTSK, IL6, ADRB2, LRP2, SPARC, GNAS, PROK2, CASP8, COL27A1, PIK3CA, SOS1, HRAS, COL1A2, EGFR, SNCA, ALB, HSPG2, LAMA3, STAT3, SHH, COL2A1, MMP1, ARG1, LAMB3, PIK3R1

PARKINSON DISEASE 4, ATAXIA-TELANGIECTASIA, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, NOONAN SYNDROME 7, CARDIOFACIOCUTANEOUS SYNDROME, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LEOPARD SYNDROME 3, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

SOX9, GJA1, NRAS, MAP2K2, IGF1, GNAS, NOS3, ATM, CFTR, RYR1, GNA11, STAT3, PPP2R1A, HRAS, AKT1, KRAS, ITPR2, IGF1R, ADRB2, GRM1, SNCA, GRID2, ESR1, BRAF, MTOR, PIK3R1

LOEYS-DIETZ SYNDROME 5, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, AYME-GRIPP SYNDROME, CAMURATI-ENGELMANN DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CLOVE SYNDROME, SOMATIC, ESTROGEN RESISTANCE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, PYCNODYSOSTOSIS, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, RUBINSTEIN-TAYBI SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}

AGL, GJA1, CREBBP, CTSK, CIITA, NOS3, STAT1, TGFB3, TGFB1, IL21, PPARG, STAT3, TRAC, VDR, ESR1, IL6, IL21R, HLA-DRB1, PIK3CA, HLA-DQB1, POMC, MAF, NOD2, HLA-DQA1, IL2RG

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, IMMUNODEFICIENCY 15, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, INCONTINENTIA PIGMENTI, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, KOSAKI OVERGROWTH SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, 46XY SEX REVERSAL 6, SELECTIVE T-CELL DEFECT, RUBINSTEIN-TAYBI SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, PERRY SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CLOVE SYNDROME, SOMATIC, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, LEOPARD SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

KRAS, CASP8, IGF1, ALB, LAMC2, PIK3R2, IKBKG, PTPN11, STAT1, TGFB3, LAMA3, CIITA, TGFB1, PPARG, ESR1, MAP3K1, LEP, AKT2, MTOR, AKT1, GJA1, PRKDC, CREBBP, IL6, HLA-DRB1, IKBKB, DCTN1, TGFBR1, PIK3CA, HLA-DQB1, PDGFRB, ZAP70, IRF8, POMC, HSPG2, STAT3, SHH, HLA-DQA1, LAMB3, PIK3R1

SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ?INFANTILE LIVER FAILURE SYNDROME 1, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ARTS SYNDROME, FRUCTOSE INTOLERANCE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, CUTIS LAXA, AUTOSOMAL DOMINANT 3, NEU-LAXOVA SYNDROME 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PYRUVATE KINASE DEFICIENCY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, MYHRE SYNDROME, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 9, COFFIN-SIRIS SYNDROME 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, NICOLAIDES-BARAITSER SYNDROME, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, CITRULLINEMIA, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, ARGININOSUCCINIC ACIDURIA, GLYCOGEN STORAGE DISEASE XII, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, NEU-LAXOVA SYNDROME 2, LEUKODYSTROPHY, HYPOMYELINATING, 10, ARGININEMIA, TYROSINEMIA, TYPE II, TRANSALDOLASE DEFICIENCY, PHOSPHOSERINE PHOSPHATASE DEFICIENCY

PHGDH, OTC, SMARCA2, ALDOA, QDPR, PRPS1, TAT, SMAD4, PSPH, ASL, CBS, PKLR, GPT2, SMARCB1, MTR, ARG1, PYCR2, ASS1, CPS1, IL6, ALDOB, PYCR1, PCNA, PSAT1, ACO2, RPS10, TALDO1, ALDH18A1, NAGS, INS, LARS

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, IMMUNODEFICIENCY 15, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, STICKLER SYNDROME, TYPE I, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CAMURATI-ENGELMANN DISEASE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OTOPALATODIGITAL SYNDROME, TYPE II, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, PSEUDOHYPOPARATHYROIDISM IA, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?IMMUNODEFICIENCY 22, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, DIAMOND-BLACKFAN ANEMIA 6, RUBINSTEIN-TAYBI SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NOONAN SYNDROME 9, FILS SYNDROME, ANGELMAN SYNDROME, FUHRMANN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, TARSAL-CARPAL COALITION SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BRACHYDACTYLY, TYPE A1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SED CONGENITA, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CORNELIA DE LANGE SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ENCEPHALOPATHY, NEONATAL SEVERE, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, AYME-GRIPP SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE XV, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, APERT SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, LEOPARD SYNDROME 1, DYSAUTONOMIA, FAMILIAL, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

BRCA2, EZH2, WNT5A, COL1A1, MT-CO2, ACTB, GNAS, IKBKG, COL1A2, RPL5, PPARG, LEP, OTX2, CD3D, NOG, HLA-DQA1, PIK3CA, POLE, PRF1, PDGFRB, SMAD4, CREBBP, COL2A1, IL2RG, TGFBR2, ACTA1, WNT7A, KRAS, GLI2, WRN, NOS3, THRA, IL6, BUB1B, CIITA, MTOR, FGFR1, TAF6, AKT2, CBL, IKBKAP, HLA-DRB1, IRF8, TGFBR1, TAF1, ROR2, GSC, TP63, PTPRC, INS, SOS2, GATA1, AGL, IGF1, DVL3, MECP2, STAT1, TGFB3, FLNA, CASR, PPP2R1A, BRCA1, AKT1, SMARCA4, TRAC, CFTR, EGFR, SLC25A4, IKBKB, IHH, GLI3, POLD1, TERT, PTEN, MUSK, POMC, MAF, RUNX2, LCK, NRAS, SLC2A1, ATR, PIK3R2, TGFB1, PTPN11, ATM, GATA6, DVL1, STAT3, MAP3K1, INSR, NOTCH1, SOS1, FGFR2, CD3G, PIK3R1, JAK3, WNT1, PCNA, HRAS, HLA-DQB1, WNT4, PRKACA, ZAP70, ALB, HSPG2, ESR1, PAX8, PORCN, SHH

IMMUNODEFICIENCY 15, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, CEREBROCOSTOMANDIBULAR SYNDROME, ATELEIOTIC DWARFISM, MYHRE SYNDROME, ZIMMERMANN-LABAND SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ZIMMERMANN-LABAND SYNDROME 1, CAMURATI-ENGELMANN DISEASE, MEIER-GORLIN SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PYCNODYSOSTOSIS, GLYCOGEN STORAGE DISEASE XII, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, INCONTINENTIA PIGMENTI, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, DIAMOND-BLACKFAN ANEMIA 6, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, COFFIN-SIRIS SYNDROME 3, WRINKLY SKIN SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CLOVE SYNDROME, SOMATIC, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, AGAMMAGLOBULINEMIA 1, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, HYPERTHYROIDISM, NONAUTOIMMUNE, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 5, AYME-GRIPP SYNDROME, IMAGE SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, PREMATURE AGING SYNDROME, PENTTINEN TYPE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, AGAMMAGLOBULINEMIA 3, OMENN SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

CD3D, MMP1, RAG1, CIITA, BMPR1A, RPL5, ATP6V1B2, TP63, PPARG, GJA1, BTK, IGHM, IL21R, PIK3CA, NOTCH1, PRF1, PDGFRB, SMAD4, CREBBP, POU1F1, HLA-DQA1, IL2RG, ATP6V0A2, RAG2, ACTA1, SMARCA4, AR, P4HB, CD79A, NOS3, DCLRE1C, IKBKG, IL21, LEP, RFXAP, CBL, ORAI1, MMP13, STAT1, IRF8, TCIRG1, TAF1, TSHR, STAT3, PTPRC, INS, ALDOA, AGL, IL7R, IGF1, CTSK, HLA-DRB1, TGFB3, SNRPB, AKT1, SMARCB1, TRAC, PRKDC, IGF1R, HLA-DQB1, ATP5A1, IKBKB, EZH2, TNFRSF11B, CDKN1C, TSHB, PEX5, XRCC4, POMC, MAF, NOD2, ACP5, RUNX2, LCK, VDR, NR0B2, POLR3A, PIK3R2, TGFB1, IGF2, PTPN11, ATM, JAK3, CFTR, FCGR2A, ORC1, RFX5, RFXANK, IL6, PCNA, TRH, PTEN, HRAS, EGFR, DNMT3B, ADA, ZAP70, ALB, ESR1, PIK3R1

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COCKAYNE SYNDROME, TYPE A, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SHORT SYNDROME, ATELOSTEOGENESIS, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, D-BIFUNCTIONAL PROTEIN DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, CAMURATI-ENGELMANN DISEASE, HYPOPHOSPHATASIA, INFANTILE, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PSEUDOHYPOPARATHYROIDISM IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PSEUDOPSEUDOHYPOPARATHYROIDISM, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ATAXIA-TELANGIECTASIA, PSEUDOHYPOPARATHYROIDISM IC, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, MICROVILLUS INCLUSION DISEASE, CRANIOFRONTONASAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, IMMUNODEFICIENCY 19, STRIATONIGRAL DEGENERATION, INFANTILE, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, PERRAULT SYNDROME 1, PARKINSON DISEASE 4, LUSCAN-LUMISH SYNDROME, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, NESTOR-GUILLERMO PROGERIA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYHRE SYNDROME, MACROCEPHALY/AUTISM SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, CRANIOLENTICULOSUTURAL DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, EHLERS-DANLOS SYNDROME, TYPE IV, MENTAL RETARDATION, X-LINKED 19, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, INFANTILE CEREBELLAR-RETINAL DEGENERATION, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), DIABETES INSIPIDUS, NEPHROGENIC, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, BOOMERANG DYSPLASIA, XERODERMA PIGMENTOSUM, GROUP B, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

PDE4D, DNM2, CD3D, UCP1, ADRB2, PRKACA, NDUFA11, GNAS, COL3A1, NDUFA1, AGT, PPARG, PTHLH, ERCC8, COX6B1, NDUFB11, SEC23A, MT-CO3, SOS1, AR, ERCC2, COX4I2, TGFBR2, SMAD4, CREBBP, SF3B4, COX8A, PCNA, VLDLR, MAP2K2, NME1, NOTCH2, ERCC3, RYR1, MT-ND6, LEP, BCAP31, AVPR2, GPX4, TGFBR1, NDUFS2, TAF1, MT-ND3, NDUFA2, NDUFA9, TNNT2, GPD1, HCFC1, RPS6KA3, NDUFA10, INS, IGF1, MC4R, TUFM, BANF1, ALPL, NDUFB3, MT-ATP6, NDUFA12, SETD2, NUP62, SDHD, STAT1, CASR, CTDP1, NDUFS7, MYO5B, BCS1L, AKT1, ITPR2, AIP, NDUFS1, DDX58, EGFR, ATP5A1, SLC25A4, MT-ND1, DCTN1, CASP8, SNCA, TSHR, HSPA9, EFNB1, PEX5, POMC, DDOST, RUNX2, COX7B, NDUFV1, NDUFS3, HSD17B4, FLNA, NOTCH1, MT-ND4, PRNP, TGFB1, SDHA, ATM, CFTR, EIF2AK3, MT-CO2, NOS3, NDUFS4, NDUFV2, NDUFB9, IL6, NDUFS8, FANCC, CACNA1S, MT-ND5, NDUFS6, PTEN, HRAS, ACO2, ADA, POLR3B, MT-CO1, FLNB, MTOR, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LYSYL HYDROXYLASE 3 DEFICIENCY, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, HETEROTAXY, VISCERAL, 5, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MULTIPLE SULFATASE DEFICIENCY, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MYHRE SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CARDIOFACIOCUTANEOUS SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, STICKLER SYNDROME, TYPE I, CAMURATI-ENGELMANN DISEASE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, CATSHL SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, RUBINSTEIN-TAYBI SYNDROME, SADDAN, COFFIN-LOWRY SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, BOOMERANG DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NOONAN SYNDROME 9, SHORT SYNDROME, FUHRMANN SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, TARSAL-CARPAL COALITION SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BRACHYDACTYLY, TYPE A1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, FUMARASE DEFICIENCY, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ?WEBB-DATTANI SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, SED CONGENITA, WIEDEMANN-STEINER SYNDROME, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CORNELIA DE LANGE SYNDROME 1, HYPOCHONDROPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, LOEYS-DIETZ SYNDROME 5, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, NOONAN SYNDROME 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE XV, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, APERT SYNDROME, PALLISTER-HALL SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, KABUKI SYNDROME 1, SERKAL SYNDROME, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

SLC34A1, BRCA2, EZH2, PLOD3, KMT2A, DYRK1B, COL1A1, PRKACA, IKBKG, COL1A2, SMARCA4, AGT, PPARG, OTX2, PRKAR1A, WNT5A, ZEB2, AKT2, NOG, FH, MMP1, COL10A1, PIK3CA, NBN, JAG1, PDGFRB, IGF1, CREBBP, COL2A1, MUSK, ARNT2, ACTA1, VRK1, KRAS, GLI2, MAP2K2, NKX2-5, AR, SP7, NOS3, IL6, MTOR, FGFR1, COL7A1, LEP, LHX3, CBL, MMP13, TGFBR1, TGFB3, ROR2, ZBTB16, GSC, FGF23, HCFC1, RPS6KA3, STAT3, BRAF, INS, TYMP, PAX8, GJA1, WNT7A, SMAD4, DVL3, SMAD9, STAT1, HDAC6, FLNA, MCPH1, LAMA3, LAMB3, SOX9, PPP2R1A, BRCA1, PTHLH, AKT1, SOX2, PRKDC, IGF1R, EGFR, IKBKB, CASP8, IHH, GLI3, SNCA, PTEN, FGFR3, DLX5, RUNX2, SUMF1, VDR, NRAS, SLC2A1, DYRK1A, NODAL, PTS, LAMC2, PIK3R2, TGFB1, PTPN11, SOS2, KMT2D, DVL1, MAP3K1, INSR, NOTCH1, SOS1, FGFR2, LRP5, PIK3R1, WNT1, L1CAM, PCNA, RET, TBX6, TUFM, HRAS, LRP2, WNT4, DNMT3B, NR0B2, ALB, HSPG2, ESR1, TGFBR2, FLNB, PORCN, TPM3, SHH

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, IMMUNODEFICIENCY 15, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, COCKAYNE SYNDROME, TYPE A, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CAMURATI-ENGELMANN DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LOEYS-DIETZ SYNDROME 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, RUBINSTEIN-TAYBI SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LEPRECHAUNISM, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PYRUVATE KINASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, FANCONI-BICKEL SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, COFFIN-SIRIS SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, OPSISMODYSPLASIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, COFFIN-SIRIS SYNDROME 4, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, PANCREATIC AGENESIS 1, ?INFANTILE LIVER FAILURE SYNDROME 1, CULLER-JONES SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HOLOPROSENCEPHALY-9, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CRANIOLENTICULOSUTURAL DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, ?IMMUNODEFICIENCY 22, CORNELIA DE LANGE SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, INFANTILE CEREBELLAR-RETINAL DEGENERATION, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MYHRE SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

NDUFS8, KMT2A, PRKACA, NDUFA11, PIK3CA, RPL5, NDUFA1, AGT, PPARG, OTX2, ERCC8, GJA1, SLC2A2, NDUFB11, SEC23A, MT-CO3, NEUROG3, PRF1, COX8A, SMAD4, CREBBP, HLA-DQA1, TGFBR2, ACTA1, SOX9, SMARCA4, CASP8, AR, SP7, PKLR, MTOR, LEP, AKT2, CBL, VPS33B, NDUFS2, NDUFA2, NDUFA9, GSC, ADRB3, STAT3, NDUFA10, INS, ABCC8, IGF1, NDUFS7, MT-CO1, LARS, KCNJ11, AGL, NDUFB3, HNF1B, NDUFA12, HNF4A, SDHD, HLA-DRB1, PMPCA, GCK, BCS1L, HRAS, AKT1, TRAC, VDR, NDUFS1, IGF1R, EGFR, NDUFS6, IKBKB, SNCA, ITCH, TSHR, GLI2, POMC, DDOST, INPPL1, MT-ND3, NDUFV1, LCK, NDUFS3, NR0B2, SMARCB1, NOTCH1, PIK3R2, TGFB1, SDHA, PTPN11, EIF2AK3, MT-CO2, INSR, NOS3, NDUFS4, NDUFV2, COX6B1, NDUFB9, IL6, COX4I2, HLA-DQB1, PCNA, PTEN, GHRL, ACO2, COX7B, ZAP70, ESR1, PIK3R1, PDX1

BARAITSER-WINTER SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OTOPALATODIGITAL SYNDROME, TYPE II, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, STICKLER SYNDROME, TYPE I, CAMURATI-ENGELMANN DISEASE, HUTCHINSON-GILFORD PROGERIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PSEUDOHYPOPARATHYROIDISM IA, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, CZECH DYSPLASIA, PSEUDOHYPOPARATHYROIDISM IC, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ARTHROGRYPOSIS, DISTAL, TYPE 8, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, COFFIN-SIRIS SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ARTHROGRYPOSIS, DISTAL, TYPE 2A, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, NOONAN SYNDROME 4, MUSCULAR DYSTROPHY, CONGENITAL, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SED CONGENITA, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SESAME SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, DIABETES INSIPIDUS, NEPHROGENIC, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MYHRE SYNDROME, LEGG-CALVE-PERTHES DISEASE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, LEOPARD SYNDROME 1, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC

SOX9, FLNA, DSP, DYRK1A, KCNJ10, MYH7, CASP8, MYH3, PRF1, ACTB, IGBP1, TGFB1, IGF2, PTPN11, RPL5, TGFB3, CFTR, TPM3, HLA-DRB1, NEB, PRKACA, LEP, LMNA, PTHLH, COL1A2, AKT1, SMARCB1, TRAC, GJA1, CBL, CREBBP, COL2A1, IL6, ESR1, DST, TPM2, CACNA1S, HLA-DQB1, GNAS, TGFBR1, PIK3CA, SOS1, HRAS, EGFR, TSHR, TNNT2, AQP2, MYH11, SMAD4, POMC, TP63, HLA-DQA1, INS, IGF1, PDE4D, PTEN, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, IMMUNODEFICIENCY 15, ?LICHTENSTEIN-KNORR SYNDROME, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, ATELOSTEOGENESIS, TYPE I, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, RUBINSTEIN-TAYBI SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LEPRECHAUNISM, LARSEN SYNDROME, BOOMERANG DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NOONAN SYNDROME 9, FUHRMANN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BRACHYDACTYLY, TYPE A1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SERKAL SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE I, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, OCULOECTODERMAL SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SED CONGENITA, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, CAMURATI-ENGELMANN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, NICOLAIDES-BARAITSER SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, NOONAN SYNDROME 7, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOGENESIS IMPERFECTA, TYPE XV, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, BANNAYAN-RILEY-RUVALCABA SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, SMARCA2, ACTB, DNM2, FLNA, WNT5A, NRAS, MAP2K2, SMAD4, PTEN, ALB, DVL3, PIK3CA, GPC3, IGF2, TGFB1, TWIST1, NOTCH1, ROR2, PPP2R1A, GATA6, KRAS, DVL1, CASR, COL6A1, AGT, GJA1, FGFR1, OTX2, PRKACA, COL1A1, IGF1R, INSR, KDM1A, NOS3, BRCA1, MTOR, WNT7A, RUNX2, AKT1, SMARCA4, SLC9A1, ESR1, CBL, IHH, DLX5, IL6, PIK3R1, STAT1, WNT1, AKT2, L1CAM, COL7A1, IKBKB, IGF1, ADRB2, EZH2, GSC, GLI3, NME1, SOS1, HRAS, COL1A2, EGFR, WNT4, TGFBR2, PORCN, GLI2, MUSK, CREBBP, HSPG2, BRAF, STAT3, ITPR2, SOS2, COL2A1, PTPN11, INS, FLNB, PIK3R2, COL10A1, PDGFRB, SHH

MOLYBDENUM COFACTOR DEFICIENCY B, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, MOLYBDENUM COFACTOR DEFICIENCY A, HYPOPHOSPHATASIA, CHILDHOOD, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, HYPOPHOSPHATASIA, INFANTILE, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY

TUFM, GCH1, ALPL, PTS, QDPR, SPR, MOCS1, MOCS2, DHFR

CLOVE SYNDROME, SOMATIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, HYPERTHYROIDISM, NONAUTOIMMUNE, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, THYROTROPIN-RELEASING HORMONE DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CAMURATI-ENGELMANN DISEASE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

HLA-DQB1, TSHR, STAT1, IL6, TSHB, HRAS, HLA-DRB1, POMC, EGFR, STAT3, PRF1, TRH, PTPN11, HLA-DQA1, INS, PIK3CA, TGFB1, TRAC

BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY 15, CAMURATI-ENGELMANN DISEASE, PSEUDOACHONDROPLASIA, MULTIPLE SULFATASE DEFICIENCY, CZECH DYSPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, CLOVE SYNDROME, SOMATIC, WERNER SYNDROME, STICKLER SYNDROME, TYPE I, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PYCNODYSOSTOSIS, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, ?STEEL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MEIER-GORLIN SYNDROME 5, PSEUDOHYPOPARATHYROIDISM IA, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ?IMMUNODEFICIENCY 22, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NOONAN SYNDROME 9, IMMUNODEFICIENCY 19, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, TARSAL-CARPAL COALITION SYNDROME, SELECTIVE T-CELL DEFECT, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ARGININEMIA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, PARKINSON DISEASE 4, COLE-CARPENTER SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, BRACHYDACTYLY, TYPE E2, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SED CONGENITA, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NIEMANN-PICK DISEASE, TYPE B, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, ?PRECOCIOUS PUBERTY, CENTRAL, 1, LOEYS-DIETZ SYNDROME 5, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, WOLCOTT-RALLISON SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, DIABETES INSIPIDUS, NEPHROGENIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ABCD SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LEGG-CALVE-PERTHES DISEASE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PROTEUS SYNDROME, SOMATIC, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, MARSHALL SYNDROME

CD3D, ADRB2, MT-CO2, ACTB, GNAS, IKBKG, COL3A1, AGT, COL11A2, PPARG, COL5A1, PTHLH, IGF2, CDC6, SMPD1, BTK, KISS1R, NOG, PROK2, COL1A1, COL10A1, PIK3CA, PRF1, PDGFRB, COL2A1, TGFBR2, ACTA1, SOX9, KRAS, DSP, CASP8, EGFR, P4HB, NOS3, IL6, CIITA, MTOR, FGFR1, COL7A1, LEP, COL1A2, AKT2, CBL, HLA-DQA1, COMP, STAT1, SPARC, IRF8, TGFBR1, STAT3, DDR2, PTPRC, LAMB3, SOS2, GATA1, AGL, GJA1, IGF1, CTSK, HLA-DRB1, TGFB3, LAMA3, ARG1, GNA11, PPP2R1A, HRAS, AKT1, PRKDC, CFTR, LRP2, IKBKB, DCTN1, COL27A1, AQP2, SNCA, PTEN, MUSK, POMC, MAF, SUMF1, LCK, LAMC2, PIK3R2, TGFB1, WRN, PTPN11, ATM, EIF2AK3, COL11A1, FCGR2A, MAP3K1, INSR, COL5A2, SOS1, CD3G, PCNA, EDNRB, HLA-DQB1, PRKACA, ZAP70, ALB, HSPG2, ESR1, PIK3R1, MMP1, SHH

BARAITSER-WINTER SYNDROME 1, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ADENYLOSUCCINASE DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, ATELEIOTIC DWARFISM, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, GLUTARICACIDURIA, TYPE I, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP E, HUTCHINSON-GILFORD PROGERIA, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, LEOPARD SYNDROME 3, FUMARASE DEFICIENCY, ?UROCANASE DEFICIENCY, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, NEU-LAXOVA SYNDROME 2, MANDIBULOACRAL DYSPLASIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, RUBINSTEIN-TAYBI SYNDROME, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, CORNELIA DE LANGE SYNDROME 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, BECKWITH-WIEDEMANN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, METHYLMALONYL-COA EPIMERASE DEFICIENCY, CUTIS LAXA, AUTOSOMAL DOMINANT 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LUJAN-FRYNS SYNDROME, SOTOS SYNDROME 1, BRUCK SYNDROME 2, DIAMOND-BLACKFAN ANEMIA 9, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ALKAPTONURIA, COFFIN-SIRIS SYNDROME 3, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, STRIATONIGRAL DEGENERATION, INFANTILE, ACETYL-COA CARBOXYLASE DEFICIENCY, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, CITRULLINEMIA, OPSISMODYSPLASIA, ARGININEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP C, LYSYL HYDROXYLASE 3 DEFICIENCY, ?INFANTILE LIVER FAILURE SYNDROME 1, COLE-CARPENTER SYNDROME 1, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, LUSCAN-LUMISH SYNDROME, TYROSINEMIA, TYPE I, KLEEFSTRA SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, TRIFUNCTIONAL PROTEIN DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, COFFIN-SIRIS SYNDROME 4, ?DYSTONIA, JUVENILE-ONSET, ?FANCONI RENOTUBULAR SYNDROME 3, WIEDEMANN-STEINER SYNDROME, ?N-ACETYLASPARTATE DEFICIENCY, RESTRICTIVE DERMOPATHY, LETHAL, ESTROGEN RESISTANCE, TRICHOHEPATOENTERIC SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), NICOLAIDES-BARAITSER SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, NEU-LAXOVA SYNDROME 1, LEUKODYSTROPHY, HYPOMYELINATING, 10, OHDO SYNDROME, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, GALACTOSE EPIMERASE DEFICIENCY, OPITZ-KAVEGGIA SYNDROME, D-GLYCERIC ACIDURIA, GABA-TRANSAMINASE DEFICIENCY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CARDIOFACIOCUTANEOUS SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, ASPARAGINE SYNTHETASE DEFICIENCY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, EHLERS-DANLOS SYNDROME, TYPE VI, NOONAN SYNDROME 7, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, HAWKINSINURIA, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, KABUKI SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, SACCHAROPINURIA, TYROSINEMIA, TYPE II, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SJOGREN-LARSSON SYNDROME, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51

LMNA, KMT2A, ADSL, ACADS, ACTB, PCCB, OTX2, KDM1A, MCCC2, GLYCTK, HADH, FH, ASPM, POR, GPT2, PSPH, AUH, HGD, GATM, KMT2C, SMARCA2, ECHS1, SMARCA4, UROC1, QDPR, CREBBP, AR, P4HB, NOS3, THRA, ABAT, PLOD3, UMPS, HADHA, ASS1, PLOD1, PYCR1, SUCLA2, GPX4, MCEE, GCDH, RPS10, FANCA, PCNA, STAT3, DNMT3A, INS, AASS, LARS, FANCE, SOX9, FTCD, SETD2, CBS, ARG1, NUP62, ALDH3A2, PYCR2, BRCA1, INPPL1, ACACA, MUT, MED12, PHGDH, POLD1, PSAT1, MCCC1, PEX5, XRCC4, NAGS, GALE, SKIV2L, EHMT1, FAH, OTC, TAT, ASNS, SMARCB1, SMS, ASL, AHCY, KMT2D, MTR, HPD, NSD1, NAT8L, MT-CO2, PCCA, CPS1, BRAF, IL6, EHHADH, FANCC, PLOD2, HNMT, DNMT3B, ALDH18A1, ESR1, TUFM, HADHB

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LYSYL HYDROXYLASE 3 DEFICIENCY, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, HETEROTAXY, VISCERAL, 5, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MULTIPLE SULFATASE DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CARDIOFACIOCUTANEOUS SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, STICKLER SYNDROME, TYPE I, CAMURATI-ENGELMANN DISEASE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, CATSHL SYNDROME, METATROPIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, LEOPARD SYNDROME 3, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, OTOPALATODIGITAL SYNDROME, TYPE II, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, RUBINSTEIN-TAYBI SYNDROME, SADDAN, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE IV, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, BOOMERANG DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 6, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NOONAN SYNDROME 9, SHORT SYNDROME, FUHRMANN SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, TARSAL-CARPAL COALITION SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, BRACHYDACTYLY, TYPE A1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, FUMARASE DEFICIENCY, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, ?WEBB-DATTANI SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SED CONGENITA, WIEDEMANN-STEINER SYNDROME, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PARASTREMMATIC DWARFISM, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CORNELIA DE LANGE SYNDROME 1, HYPERTHYROIDISM, NONAUTOIMMUNE, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, LOEYS-DIETZ SYNDROME 5, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, IMAGE SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, SPONDYLOCOSTAL DYSOSTOSIS 5, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ABCD SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, DIABETES INSIPIDUS, NEPHROGENIC, NOONAN SYNDROME 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE XV, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MECKEL SYNDROME 4, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, APERT SYNDROME, PALLISTER-HALL SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, KABUKI SYNDROME 1, BRACHYOLMIA TYPE 3, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

SLC34A1, BRCA2, EZH2, PLOD3, KMT2A, DYRK1B, ADRB2, PRKACA, GNAS, IKBKG, COL1A2, RPL5, AGT, PPARG, OTX2, PRKAR1A, WNT5A, ZEB2, MMP1, NOG, FH, COL1A1, SMARCA4, PIK3CA, TGFBR2, PDGFRB, SMAD4, CREBBP, COL2A1, MUSK, ARNT2, ACTA1, WNT7A, TRPV4, KRAS, GLI2, MAP2K2, NKX2-5, AR, NOS3, IL6, TPM3, FGFR1, COL7A1, LEP, AKT2, CBL, MMP13, AVPR2, TGFBR1, TGFB3, ROR2, ZBTB16, GSC, FGF23, STAT3, BRAF, INS, PAX8, GJA1, SOX9, IGF1, DVL3, CEP290, STAT1, HDAC6, FLNA, CASR, LAMA3, LAMB3, GNA11, PPP2R1A, HES7, HRAS, BRCA1, PTHLH, AKT1, SOX2, ITPR2, PRKDC, IGF1R, EGFR, IKBKB, CASP8, IHH, GLI3, SNCA, CDKN1C, TSHR, EFNB1, PTEN, FGFR3, POMC, DLX5, RUNX2, SUMF1, VDR, NRAS, SLC2A1, DYRK1A, NODAL, PTS, LAMC2, PIK3R2, TGFB1, PTPN11, ATM, SOS2, KMT2D, DVL1, MAP3K1, INSR, NOTCH1, SOS1, FGFR2, LRP5, RPL11, WNT1, L1CAM, PCNA, RET, TBX6, EDNRB, LRP2, WNT4, DNMT3B, NHP2, NR0B2, ALB, HSPG2, ESR1, PIK3R1, FLNB, PORCN, MTOR, SHH

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, BARAITSER-WINTER SYNDROME 1, LOEYS-DIETZ SYNDROME 5, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY 15, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, REVESZ SYNDROME, TRYPSINOGEN DEFICIENCY, OSTEOGLOPHONIC DYSPLASIA, CAMURATI-ENGELMANN DISEASE, CLOVE SYNDROME, SOMATIC, BLOOM SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, INCONTINENTIA PIGMENTI, AICARDI-GOUTIERES SYNDROME 7, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, WOLCOTT-RALLISON SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, SELECTIVE T-CELL DEFECT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PERRY SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SINGLETON-MERTEN SYNDROME 1, CINCA SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SHORT SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANDROGEN INSENSITIVITY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, XERODERMA PIGMENTOSUM, GROUP B, LOEYS-DIETZ SYNDROME 2, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME, LOEYS-DIETZ SYNDROME 1, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, GATA1, PRF1, AR, FGFR1, SMARCA4, MAP2K2, IGF1, CREBBP, IFIH1, PIK3R2, IKBKG, PTPN11, STAT1, TGFB3, IL6, NLRC4, CIITA, TGFB1, HLA-DRB1, PPARG, STAT3, PRKAR1A, AKT2, MTOR, AKT1, BTK, GJA1, BLM, NLRP3, CBL, HLA-DQA1, DDX58, HLA-DQB1, IKBKB, DCTN1, CASP8, TGFBR1, ERCC3, PIK3CA, HRAS, EGFR, EIF2AK3, DNAJC3, NOD2, ACTB, PDGFRB, ZAP70, IRF8, POMC, ESR1, TGFBR2, TINF2, INS, PRSS1, PIK3R1

LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, GLYCOGEN STORAGE DISEASE VI, LEPRECHAUNISM, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, SHORT SYNDROME, OCULOECTODERMAL SYNDROME, GLYCOGEN STORAGE DISEASE IA, ?SECKEL SYNDROME 6, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PYRUVATE KINASE DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, NOONAN SYNDROME 9, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, MYOTUBULAR MYOPATHY, X-LINKED, NOONAN SYNDROME 7, ANGELMAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LEOPARD SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NOONAN SYNDROME 4, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLYCOGEN STORAGE DISEASE IXC, OPSISMODYSPLASIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, RABSON-MENDENHALL SYNDROME, ACETYL-COA CARBOXYLASE DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, ?IMMUNODEFICIENCY 22, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, PHKB, TGFBR1, KRAS, NRAS, MAP2K2, IGF1, PHKA2, PIK3R2, PHKG2, PYGL, NOS3, SOS2, CFTR, LEP, GCK, FGFR1, ESR1, PRKACA, PPP2R1A, INSR, PRKAR1A, PKLR, AKT2, AKT1, INPPL1, ACACA, BRCA1, IGF1R, CBL, NPHS1, UBE3A, PDE3A, INS, IKBKB, G6PC, DNM2, PIK3CA, SOS1, NOTCH1, EGFR, MUSK, MYH11, CREBBP, STAT3, ITPR2, G6PC3, BRAF, CEP63, HRAS, SF3B4, MTOR, PIK3R1

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, BARAITSER-WINTER SYNDROME 1, IMMUNODEFICIENCY 15, REVESZ SYNDROME, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE II, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PSEUDOACHONDROPLASIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, MULTIPLE SULFATASE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, GAUCHER DISEASE, PERINATAL LETHAL, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, DIAMOND-BLACKFAN ANEMIA 5, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, D-BIFUNCTIONAL PROTEIN DEFICIENCY, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, CAMURATI-ENGELMANN DISEASE, DYSAUTONOMIA, FAMILIAL, LOEYS-DIETZ SYNDROME 2, FARBER LIPOGRANULOMATOSIS, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MUCOLIPIDOSIS II ALPHA/BETA, PYCNODYSOSTOSIS, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, MANNOSIDOSIS, ALPHA-, TYPES I AND II, SALLA DISEASE, LARON DWARFISM, 3MC SYNDROME 2, GLYCOGEN STORAGE DISEASE XII, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, FUCOSIDOSIS, PSEUDOPSEUDOHYPOPARATHYROIDISM, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, SADDAN, GM1-GANGLIOSIDOSIS, TYPE III, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, MEVALONIC ACIDURIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), LEOPARD SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE IV, WRINKLY SKIN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ?IMMUNODEFICIENCY 22, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, MUCOLIPIDOSIS III GAMMA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MICROVILLUS INCLUSION DISEASE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, CK SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, CATSHL SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, BRUCK SYNDROME 2, FRANK-TER HAAR SYNDROME, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, MUCOPOLYSACCHARIDOSIS II, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CHYLOMICRON RETENTION DISEASE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), OCULOECTODERMAL SYNDROME, TARSAL-CARPAL COALITION SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 4B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PERRAULT SYNDROME 1, MEDNIK SYNDROME, PARKINSON DISEASE 4, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, NIEMANN-PICK DISEASE, TYPE A, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GM1-GANGLIOSIDOSIS, TYPE I, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ?JOUBERT SYNDROME 22, PEROXISOME BIOGENESIS DISORDER 3B, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, CORNELIA DE LANGE SYNDROME 4, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, TRIFUNCTIONAL PROTEIN DEFICIENCY, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, OSTEOGENESIS IMPERFECTA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?FANCONI RENOTUBULAR SYNDROME 3, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, CLOVE SYNDROME, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 6, ?MUCOPOLYSACCHARIDOSIS TYPE IX, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), LEUKODYSTROPHY, HYPOMYELINATING, 12, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ESTROGEN RESISTANCE, MUENKE SYNDROME, MARINESCO-SJOGREN SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, CHILD SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, GROWTH HORMONE INSENSITIVITY, PARTIAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, ZIMMERMANN-LABAND SYNDROME 2, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, ALAGILLE SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, KRABBE DISEASE, ROBINOW SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, LOEYS-DIETZ SYNDROME 5, MUCOLIPIDOSIS III ALPHA/BETA, MALONYL-COA DECARBOXYLASE DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ASPARTYLGLUCOSAMINURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MUCOPOLYSACCHARIDOSIS, MPS-III-A, MUCOPOLYSACCHARIDOSIS VII, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, DIABETES INSIPIDUS, NEPHROGENIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), SHORT SYNDROME, 3MC SYNDROME 1, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, AGAMMAGLOBULINEMIA 3, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, PEROXISOME BIOGENESIS DISORDER 8B, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, GAUCHER DISEASE, TYPE III, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, GAUCHER DISEASE, TYPE II, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MUCOPOLYSACCHARIDOSIS IVA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

FUCA1, MPV17, ASAH1, PEX13, ADRB2, RAD21, PRKACA, ACTB, GNAS, CIITA, CTSA, RPL5, ALDOA, KCNJ11, GUSB, AGT, ARSB, PPARG, GNPTG, PTHLH, NSDHL, SMPD1, IDUA, SLC17A5, MAN2B1, NOG, ASPM, PDE6D, TGFBR1, PEX7, PNPLA2, COL1A1, MLYCD, PIK3CA, GALNS, PRF1, JAG1, TGFBR2, PDGFRB, SMAD4, CREBBP, IKBKAP, HLA-DQA1, IL2RG, DYNC2H1, MUSK, SOX9, DVL3, KRAS, CASP8, EGFR, NME1, IGF2, IDS, IGBP1, HYAL1, AGPAT2, CBS, IKBKG, IL21, AMACR, NOD2, NOS3, LEP, PEX6, AKT2, DDOST, ARFGEF2, CBL, HGSNAT, GLA, COMP, GNS, ACP5, DVL1, SGSH, TAF1, AP1S1, ATP6V0A2, AP4E1, TMEM173, COLEC11, ABCD4, ATP6V1B2, TSHR, DNM2, AP4B1, TP63, TUFM, INS, PAM16, FCGR2A, TCIRG1, GLB1, AGL, GJA1, SSR4, IGF1, CTSK, GNPTAB, PEX19, GHR, MVK, HLA-DRB1, TGFB3, CASR, MYO5B, PPP2R1A, PLK4, VPS11, AKT1, TRAC, HADHB, PEX16, MRPL3, IGF1R, BMPR1A, UBE3A, LIPA, ATP5A1, LRP2, IKBKB, DCTN1, ADRB3, AQP2, SNCA, CTNS, ITCH, NOTCH3, SIL1, PEX5, FGFR3, POMC, NEU1, SNAP29, CFTR, BTK, TUBB4A, STAT3, SUMF1, SAR1B, LCK, PEX1, HSD17B4, FLNA, ZAP70, MASP1, AGPS, ALB, AP4S1, PIK3R2, TGFB1, PTPN11, ATM, AHCY, PIP5K1C, DDX58, CD79A, CASK, STAT1, RPL11, STAMBP, MAP3K1, INSR, GALC, RPL35A, PEX12, FGFR2, IL6, GBA, EHHADH, GNPAT, FAR1, L1CAM, PLOD2, RET, AGA, DHFR, HRAS, HACE1, HLA-DQB1, DNAJC3, OCLN, VPS45, SH3PXD2B, PEX2, HSPG2, ESR1, PIK3R1, TINF2, MMP1, MTOR, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ROBINOW SYNDROME, CULLER-JONES SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OSTEOGENESIS IMPERFECTA, TYPE IV, SPONDYLOCOSTAL DYSOSTOSIS 5, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, HOLOPROSENCEPHALY-9, BANNAYAN-RILEY-RUVALCABA SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OSTEOGENESIS IMPERFECTA, TYPE II, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, OCULOECTODERMAL SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, RUBINSTEIN-TAYBI SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, FOCAL DERMAL HYPOPLASIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ABCD SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, FUHRMANN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XV, PARKINSON DISEASE 4, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, SERKAL SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPERPARATHYROIDISM, NEONATAL, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

SOX9, FLNA, KRAS, NRAS, MAP2K2, SMAD4, CREBBP, DVL3, GNAS, COL1A2, GATA6, CASR, PRKACA, OTX2, ROR2, AKT1, GJA1, WNT5A, DVL1, WNT1, TBX6, PTEN, EDNRB, SNCA, WNT4, GLI2, MUSK, POMC, ESR1, HRAS, WNT7A, INS, RUNX2, PORCN, GSC, SHH

?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, OCULOECTODERMAL SYNDROME, SHORT SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 9, CLOVE SYNDROME, SOMATIC, FANCONI-BICKEL SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, ESTROGEN RESISTANCE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, OPSISMODYSPLASIA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, RABSON-MENDENHALL SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, GALACTOSEMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

NRAS, KRAS, MAP2K2, IGF2, AKT1, PIK3R2, STAT1, GCK, INSR, LEP, AKT2, GALT, SLC2A2, INPPL1, ESR1, IL6, ADRB2, PIK3CA, SOS1, HRAS, EGFR, POR, TSHR, POMC, STAT3, PIK3R1, INS, MTOR, SOS2

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, IMMUNODEFICIENCY 15, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, INCONTINENTIA PIGMENTI, OCULOECTODERMAL SYNDROME, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, NOONAN SYNDROME 9, CLOVE SYNDROME, SOMATIC, NOONAN SYNDROME 7, CARDIOFACIOCUTANEOUS SYNDROME, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LEOPARD SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LOEYS-DIETZ SYNDROME 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

NRAS, KRAS, MAP2K2, SMAD4, PIK3R2, IKBKG, PTPN11, TGFB3, TGFB1, MTOR, AKT2, AKT1, CBL, IKBKB, TGFBR1, PIK3CA, SOS1, HRAS, EGFR, TGFBR2, IGF1, CREBBP, ESR1, PIK3R1, BRAF, PTEN, SOS2

INCONTINENTIA PIGMENTI, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, SELECTIVE T-CELL DEFECT, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 4, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, IMMUNODEFICIENCY 19, AGAMMAGLOBULINEMIA 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, AGAMMAGLOBULINEMIA 3, OMENN SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, RUBINSTEIN-TAYBI SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

LCK, IL7R, CD3D, RAG1, IKBKG, NOTCH1, STAT1, DCLRE1C, CIITA, RFX5, RFXANK, RFXAP, SMARCA4, BTK, PRKDC, CBL, ORAI1, IGHM, CD79A, ADA, RAG2, ZAP70, CREBBP, JAK3, PTPRC, IL2RG

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, PERRAULT SYNDROME 1, ATAXIA-TELANGIECTASIA, PARKINSON DISEASE 4, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, LUSCAN-LUMISH SYNDROME, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, COCKAYNE SYNDROME, TYPE A, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NESTOR-GUILLERMO PROGERIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, INFANTILE CEREBELLAR-RETINAL DEGENERATION, MENTAL RETARDATION, X-LINKED 19, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PERRY SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ANGELMAN SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, STRIATONIGRAL DEGENERATION, INFANTILE, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CRANIOLENTICULOSUTURAL DYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, ENCEPHALOPATHY, NEONATAL SEVERE, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, COFFIN-LOWRY SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACO2, UCP1, HSD17B4, SEC23A, NDUFB3, NDUFS3, MT-ATP6, SDHD, NDUFA12, SETD2, NUP62, MT-ND4, NDUFA11, BANF1, SDHA, AKT1, NOS3, ATM, NDUFA9, COX7B, NDUFA1, CTDP1, NDUFS7, SNCA, PPARG, MT-CO2, MECP2, NDUFS4, MTOR, NDUFV2, NDUFB9, NDUFS1, IL6, COX6B1, AR, ATP5A1, SLC25A4, HCFC1, DCTN1, COX4I2, NDUFS8, NDUFS2, MT-CO3, ERCC8, NDUFA2, EGFR, NDUFS6, HSPA9, ERCC2, TNNT2, GPD1, NDUFB11, CREBBP, RPS6KA3, CASP8, MT-CO1, NDUFA10, GPX4, TUFM, COX8A, NDUFV1

TRIFUNCTIONAL PROTEIN DEFICIENCY, MALONYL-COA DECARBOXYLASE DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PROPIONICACIDEMIA, GABA-TRANSAMINASE DEFICIENCY, METHYLMALONYL-COA EPIMERASE DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ACETYL-COA CARBOXYLASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ?FANCONI RENOTUBULAR SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

SUCLG1, TUFM, ACACA, PCCB, MUT, EHHADH, HADHB, ECHS1, SUCLA2, MLYCD, MCEE, PCCA, HADHA, ABAT

BARAITSER-WINTER SYNDROME 1, ATAXIA-TELANGIECTASIA, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, PARKINSON DISEASE 4, PALLISTER-HALL SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OPITZ-KAVEGGIA SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, ANDROGEN INSENSITIVITY, SHORT SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, OCULOECTODERMAL SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, COFFIN-SIRIS SYNDROME 4, LATERAL MENINGOCELE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MYHRE SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, NOONAN SYNDROME 9, CLOVE SYNDROME, SOMATIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIOFACIOCUTANEOUS SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HAJDU-CHENEY SYNDROME, OHDO SYNDROME, X-LINKED, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ROBINOW SYNDROME, RUBINSTEIN-TAYBI SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, LUJAN-FRYNS SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SERKAL SYNDROME, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

NRAS, AR, SLC2A1, SMARCA4, HNF1B, NKX2-5, CREBBP, DVL3, PIK3R2, GLI3, NOTCH2, ATM, STAT1, KRAS, MTOR, PPARG, ESR1, PRKACA, NOTCH1, AKT2, SOS1, SLC9A1, ITPR2, BRCA1, IL6, MED12, THRA, DYRK1A, MED17, MAP2K2, PIK3CA, AKT1, HRAS, SNCA, NOTCH3, ACTB, WNT4, SMAD4, ATR, STAT3, SOS2, IGF1, PTEN, PIK3R1

MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, GM1-GANGLIOSIDOSIS, TYPE III, MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MUCOPOLYSACCHARIDOSIS II, CAMURATI-ENGELMANN DISEASE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MUCOPOLYSACCHARIDOSIS IH/S, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), GM1-GANGLIOSIDOSIS, TYPE I, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS IVA, MUCOPOLYSACCHARIDOSIS, MPS-III-A

SGSH, ARSB, HGSNAT, GLB1, GNS, GUSB, HSPG2, IDS, HYAL1, NEU1, IDUA, TGFB1, GALNS

LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, IMMUNODEFICIENCY 15, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?INFANTILE LIVER FAILURE SYNDROME 1, CAMURATI-ENGELMANN DISEASE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, SHORT SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, INFANTILE CEREBELLAR-RETINAL DEGENERATION, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PYRUVATE KINASE DEFICIENCY, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WOLCOTT-RALLISON SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, RABSON-MENDENHALL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

PCNA, ACO2, LARS, SDHD, SDHA, NDUFB3, NDUFS3, CASP8, NDUFA12, BCS1L, AR, NDUFA11, PIK3R2, TGFB1, PIK3CA, PKLR, INSR, COX7B, NDUFA1, LEP, AGT, NDUFS7, SNCA, PPARG, TP63, MT-CO2, NOS3, PTPN11, AKT2, MTOR, AKT1, NDUFB9, NDUFA2, ESR1, NDUFS1, NDUFS4, IL6, PIK3R1, COX6B1, EGFR, COX4I2, IKBKB, COX8A, NDUFS8, NDUFS2, MT-CO3, NDUFV2, HRAS, ITCH, NDUFS6, EIF2AK3, NDUFA9, PRKACA, PTEN, NDUFB11, STAT3, DDOST, MT-CO1, NDUFA10, INS, IGF1, TGFBR2, NDUFV1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, LATERAL MENINGOCELE SYNDROME, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, KOWARSKI SYNDROME, PSEUDOACHONDROPLASIA, MULTIPLE SULFATASE DEFICIENCY, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WEISSENBACHER-ZWEYMULLER SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ATELEIOTIC DWARFISM, MYHRE SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CARDIOFACIOCUTANEOUS SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, STICKLER SYNDROME, TYPE I, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, CATSHL SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, CAMURATI-ENGELMANN DISEASE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, LARON DWARFISM, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, ?STEEL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MEIER-GORLIN SYNDROME 5, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, PSEUDOHYPOPARATHYROIDISM IA, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, SADDAN, COFFIN-LOWRY SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NOONAN SYNDROME 9, SHORT SYNDROME, FUHRMANN SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PSEUDOHYPOALDOSTERONISM, TYPE I, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, TARSAL-CARPAL COALITION SYNDROME, OPSISMODYSPLASIA, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, RABSON-MENDENHALL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, BRACHYDACTYLY, TYPE A1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COLE-CARPENTER SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE IA, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?MYOSCLEROSIS, CONGENITAL, ALAGILLE SYNDROME, SED CONGENITA, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SPONDYLOPERIPHERAL DYSPLASIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, GROWTH HORMONE INSENSITIVITY, PARTIAL, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, EHLERS-DANLOS SYNDROME, TYPE IV, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 1, ?PRECOCIOUS PUBERTY, CENTRAL, 1, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, CLOVE SYNDROME, SOMATIC, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ABCD SYNDROME, ESTROGEN RESISTANCE, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MECKEL SYNDROME 4, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LEGG-CALVE-PERTHES DISEASE, APERT SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PROTEUS SYNDROME, SOMATIC, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, MARSHALL SYNDROME

SLC34A1, IHH, PLOD3, WNT5A, COL1A1, SCNN1A, ACTB, IGBP1, IKBKG, G6PC, COL3A1, AGT, COL11A2, PPARG, COL5A1, OTX2, CDC6, GJA1, G6PC3, COL6A3, NOG, PROK2, MMP1, COL10A1, PIK3CA, SERPINH1, NOTCH1, PRF1, JAG1, TGFBR2, IGF1, CREBBP, COL2A1, IL2RG, PDGFRB, ACTA1, WNT7A, ACAN, GH1, KRAS, MAP2K2, COL6A2, SP7, IGF2, GNAS, NOS3, MTOR, FGFR1, BLK, COL7A1, LEP, GHR, AKT2, CBL, COMP, TGFBR1, NOTCH3, FGF23, PCNA, RPS6KA3, STAT3, DDR2, INS, SOS2, IL7R, SHOC2, SMAD4, CEP290, STAT1, CASR, LAMA3, LAMB3, SOX9, PPP2R1A, HRAS, BRCA1, AKT1, SOX2, INPPL1, PRKDC, ACACA, IGF1R, IKBKB, COL27A1, COL1A2, KISS1R, ITCH, HSPA9, EFNB1, PTEN, FGFR3, ABCB11, NOD2, BTK, DLX5, RUNX2, SUMF1, LCK, NRAS, FLNA, NR0B2, PPP2R5D, LAMC2, PIK3R2, TGFB1, P4HB, PTPN11, JAK3, COL11A1, TP63, INSR, COL5A2, COL6A1, SOS1, FGFR2, IL6, L1CAM, HCFC1, EDNRB, EGFR, MYH11, ALB, HSPG2, ESR1, PIK3R1, SHH

LYSYL HYDROXYLASE 3 DEFICIENCY, BARAITSER-WINTER SYNDROME 1, COLE-CARPENTER SYNDROME 1, LUSCAN-LUMISH SYNDROME, KLEEFSTRA SYNDROME, BECKWITH-WIEDEMANN SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ANDROGEN INSENSITIVITY, TRIFUNCTIONAL PROTEIN DEFICIENCY, SACCHAROPINURIA, COFFIN-SIRIS SYNDROME 4, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, ?DYSTONIA, JUVENILE-ONSET, SOTOS SYNDROME 1, ?FANCONI RENOTUBULAR SYNDROME 3, GLUTARICACIDURIA, TYPE I, BRUCK SYNDROME 2, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CORNELIA DE LANGE SYNDROME 1, KABUKI SYNDROME 1, EHLERS-DANLOS SYNDROME, TYPE VI, RUBINSTEIN-TAYBI SYNDROME, WIEDEMANN-STEINER SYNDROME, SJOGREN-LARSSON SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

ACTB, SMARCA4, SETD2, AR, P4HB, THRA, KMT2D, NSD1, PLOD3, ALDH3A2, HADHA, KMT2A, HADHB, PLOD1, HADH, EHHADH, PLOD2, GCDH, ECHS1, PCNA, CREBBP, KMT2C, EHMT1, AASS

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, GLUTARICACIDURIA, TYPE I, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, CATSHL SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MOLYBDENUM COFACTOR DEFICIENCY A, ?UROCANASE DEFICIENCY, EXOSTOSES, MULTIPLE, TYPE 1, MANDIBULOACRAL DYSPLASIA, CATEL-MANZKE SYNDROME, COFFIN-LOWRY SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, MEND SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, MUCOPOLYSACCHARIDOSIS II, CK SYNDROME, ANGELMAN SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, CITRULLINEMIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, LUSCAN-LUMISH SYNDROME, KLEEFSTRA SYNDROME, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, GLYCOGEN STORAGE DISEASE IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?FANCONI RENOTUBULAR SYNDROME 3, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?N-ACETYLASPARTATE DEFICIENCY, MUCOPOLYSACCHARIDOSIS VII, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NICOLAIDES-BARAITSER SYNDROME, SENGERS SYNDROME, CORNELIA DE LANGE SYNDROME 5, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, OGDEN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 10, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, TYROSINEMIA, TYPE I, MALONYL-COA DECARBOXYLASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), GABA-TRANSAMINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED 72, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, ?DIARRHEA 7, SACCHAROPINURIA, TYROSINEMIA, TYPE II, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ?LICHTENSTEIN-KNORR SYNDROME, DIHYDROPYRIMIDINURIA, COCKAYNE SYNDROME, TYPE A, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BARTH SYNDROME, MEDNIK SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, D-BIFUNCTIONAL PROTEIN DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, CEREBROOCULOFACIOSKELETAL SYNDROME 4, FARBER LIPOGRANULOMATOSIS, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPOPHOSPHATASIA, INFANTILE, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, ATAXIA-TELANGIECTASIA, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CUTIS LAXA, AUTOSOMAL DOMINANT 3, DYSKERATOSIS CONGENITA, X-LINKED, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, WRINKLY SKIN SYNDROME, COFFIN-SIRIS SYNDROME 3, STRIATONIGRAL DEGENERATION, INFANTILE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, CORTISONE REDUCTASE DEFICIENCY 1, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, CORTISONE REDUCTASE DEFICIENCY 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NEPHRONOPHTHISIS 1, JUVENILE, PERRAULT SYNDROME 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, EVEN-PLUS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, FRUCTOSE INTOLERANCE, NEPHROTIC SYNDROME, TYPE 1, GLYCEROL KINASE DEFICIENCY, ?MUCOPOLYSACCHARIDOSIS TYPE IX, ESTROGEN RESISTANCE, DESBUQUOIS DYSPLASIA 2, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, CORNELIA DE LANGE SYNDROME 2, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, KRABBE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, ASPARAGINE SYNTHETASE DEFICIENCY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), LESCH-NYHAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ?MICROPHTHALMIA, SYNDROMIC 1, MUCOPOLYSACCHARIDOSIS IVA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, GAUCHER DISEASE, TYPE II, SJOGREN-LARSSON SYNDROME, REVESZ SYNDROME, GLYCOGEN STORAGE DISEASE IV, CAMURATI-ENGELMANN DISEASE, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, AMISH INFANTILE EPILEPSY SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, METHYLMALONYL-COA EPIMERASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEVALONIC ACIDURIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), GLYCOGEN STORAGE DISEASE VI, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, DIAMOND-BLACKFAN ANEMIA 6, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, DIAMOND-BLACKFAN ANEMIA 9, FILS SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MILLER SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, VITAMIN D-DEPENDENT RICKETS, TYPE I, OCULOECTODERMAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, MUCOPOLYSACCHARIDOSIS TYPE IIID, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, NIEMANN-PICK DISEASE, TYPE B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CORNELIA DE LANGE SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PARKINSON DISEASE 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, KOSAKI OVERGROWTH SYNDROME, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, ?SECKEL SYNDROME 8, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ?MICROPHTHALMIA, SYNDROMIC 13, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, APERT SYNDROME, PANCREATIC LIPASE DEFICIENCY, EXOSTOSES, MULTIPLE, TYPE 2, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, THANATOPHORIC DYSPLASIA, TYPE II, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, MULTIPLE SULFATASE DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADENYLOSUCCINASE DEFICIENCY, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, COLE-CARPENTER SYNDROME 1, ZIMMERMANN-LABAND SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TRANSALDOLASE DEFICIENCY, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, HUTCHINSON-GILFORD PROGERIA, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, COENZYME Q10 DEFICIENCY, PRIMARY, 7, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PSEUDOHYPOPARATHYROIDISM IA, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, CHIME SYNDROME, GLUCOCORTICOID DEFICIENCY 4, SMITH-LEMLI-OPITZ SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, TATTON-BROWN-RAHMAN SYNDROME, DESMOSTEROLOSIS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, ARTS SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PYRUVATE KINASE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, ALKAPTONURIA, NEU-LAXOVA SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ARGININEMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, FUMARASE DEFICIENCY, LOWE SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, RESTRICTIVE DERMOPATHY, LETHAL, GAUCHER DISEASE, TYPE III, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), CHILD SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, GALACTOSEMIA, ENCEPHALOPATHY, NEONATAL SEVERE, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, CODAS SYNDROME, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, WILSON-TURNER SYNDROME, ANDROGEN INSENSITIVITY, NEU-LAXOVA SYNDROME 1, ?SPASTIC PARAPLEGIA 63, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, MUENKE SYNDROME, HAWKINSINURIA, MUCOPOLYSACCHARIDOSIS IH/S, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DENT DISEASE 2, SMITH-KINGSMORE SYNDROME

FGFR1, SLC34A1, GPT2, ACADS, GNAS, RPL5, GUSB, ENPP1, ALG3, PCYT1A, NSDHL, GLYCTK, MCCC1, FH, H6PD, DNM2, G6PC, PNPO, ARSE, POR, CYB5R3, PSPH, HGD, PHKB, AR, P4HB, IDS, CBS, ABAT, ASAH1, MT-ND6, TAF6, ALAD, NR0B1, STT3A, NR1I3, SUCLA2, PAPSS2, SGSH, RPS10, NDUFA1, TNNT2, GPD1, CYP21A2, NAGS, NAT8L, NDUFA10, PMM2, MT-CO1, MAN1B1, BANF1, ALDOA, AGL, PRPS1, LIAS, NDUFA12, SETD2, SMAD4, PIGY, MCEE, ASNS, LEP, CTDP1, ARG1, NARS2, NUP62, PPP2R1A, NDUFA2, AKT1, INPPL1, NPHS1, COX15, EZH2, GALC, PEX13, FANCA, HSPA9, GNE, PEX5, ECHS1, POMC, MTM1, ADK, POLA1, TAT, PIGA, LRP5, SLC9A1, PIGN, NPHP1, PIGL, PTPN11, HPD, HADHB, MT-CO2, NDUFS4, PCCA, ALG1, DPM1, EHHADH, GPX4, B4GALT7, MLYCD, GHRL, LIPA, DHCR24, COX7B, RDH11, PNPLA2, ALB, NDUFS2, AGK, KMT2A, NAA10, MOCS2, DGUOK, DPH1, PCCB, PTDSS1, MCCC2, UBE2A, G6PC3, MYH7, HMGB3, HADH, ASPM, NDUFB11, MT-ATP6, PGAP1, MT-CO3, GALNS, CYP11B1, RRM2B, NRAS, HSD11B1, OCRL, SOX9, TNNT3, ALDOB, NME1, MPI, PYGL, NOTCH1, GNS, AMACR, GK, EARS2, ADAMTS10, TCIRG1, MCPH1, SDC3, FGF23, STAT3, BRAF, SLC26A3, AKR1D1, NDUFS3, ALPL, NDUFB3, MMAB, IGF1, KRT5, SMAD9, CYP27B1, TAZ, AASS, ALDH3A2, TGDS, SMC1A, GBE1, VDR, MUT, COQ9, EGFR, ITPA, SNCA, DGAT1, QDPR, DHODH, POLR3B, NDUFV1, OTC, PTS, JAGN1, B3GAT3, XYLT1, PGM1, TYMP, PIP5K1C, DDX58, MTR, NDUFB9, IL6, PCNA, DHFR, PMPCA, ADA, ALDH18A1, HSPG2, ESR1, PYCR1, SURF1, C10orf2, SKIV2L, LMNA, ADSL, IKBKG, EFTUD2, CYP11B2, ATP6V1B2, AGT, VPS53, MGAT2, TRAPPC2, KDM1A, ERCC8, DPYS, SIM1, FANCM, PIK3CA, MSMO1, ST3GAL5, COX8A, NUBPL, SMARCA4, UROC1, CASP8, COQ4, IGF2, NOS3, RAB39B, NNT, GALT, HADHA, IMPAD1, MT-ND3, DPYD, NDUFA9, TALDO1, COX14, RPS6KA3, DKC1, INS, PAM16, GLB1, SMPD1, EXT1, BCS1L, BRCA1, SMS, ATP5A1, MT-ND1, DNA2, POLD1, PIGO, NONO, FGFR3, POLG2, COX10, FAH, SSR4, SMARCB1, HDAC8, AGPS, ASL, MT-ND4, SDHA, TGFB1, POLE, GATM, DNMT3A, GBA, SUCLG1, TRH, MOCS1, HRAS, POLG, AGPAT2, PEX7, TINF2, TUFM, PNLIP, NEU1, POLR1A, COL1A1, NDUFA11, PIGT, ERCC1, EBP, PPARG, OTX2, STT3B, HPRT1, BTK, COX6B1, CLASP1, NDUFS8, COQ7, IDUA, ERCC2, PDGFRB, XYLT2, AUH, UMPS, BLM, ATP6V0A2, CYP2R1, SMARCA2, SDHD, KRAS, HYAL1, GCH1, RYR1, LHX3, LONP1, ASS1, COX4I2, TAF1, AP1S1, GCDH, CLPB, NDST1, CYP24A1, NDUFS7, LARS, GJA1, FTCD, INPP5E, HNF4A, SPR, MECP2, MVK, ACAN, GCK, PYCR2, MTOR, UROS, GALE, NDUFS1, MRPL3, IGF1R, ACO2, NDUFS6, PSAT1, ARSB, SIL1, B3GALT6, DDOST, HGSNAT, LYRM4, RUNX2, SUMF1, LCK, FLNA, MYH11, POLR3A, ACACA, HCCS, HSD17B4, DHCR7, PDHA1, ATM, CASK, EXT2, INSR, PKLR, NDUFV2, CPS1, FGFR2, GNPAT, FANCC, MT-ND5, GPC3, PEX19, PNP, DOLK, AMPD2, DNMT3B, NHP2, NR0B2, PHGDH, ATR, AHCY, SHH, HSD3B7, PIK3R1