GROWTH

BARAITSER-WINTER SYNDROME 1, IMMUNODEFICIENCY 19, SELECTIVE T-CELL DEFECT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 22

LCK, HLA-DQB1, HLA-DQA1, CD3G, CBL, CD3D, ZAP70, HLA-DRB1, ACTB, TRAC

IMMUNODEFICIENCY 19, ?IMMUNODEFICIENCY 22, LEOPARD SYNDROME 1, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {CELIAC DISEASE, SUSCEPTIBILITY TO}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

LCK, HLA-DQB1, CD3G, CD3D, HLA-DRB1, STAT1, TRAC, HLA-DQA1, PTPN11

IMMUNODEFICIENCY 19, SELECTIVE T-CELL DEFECT, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {CELIAC DISEASE, SUSCEPTIBILITY TO}

LCK, HLA-DRB1, CD3G, CD3D, ZAP70, HLA-DQB1, HLA-DQA1, TRAC

LOEYS-DIETZ SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, IMAGE SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OSTEOGENESIS IMPERFECTA, TYPE IV, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OSTEOGENESIS IMPERFECTA, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MYHRE SYNDROME, BRACHYDACTYLY, TYPE A1, C, ALAGILLE SYNDROME, DENTAL ANOMALIES AND SHORT STATURE, ACROMICRIC DYSPLASIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, 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, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, CHONDRODYSPLASIA, GREBE TYPE, MARFAN LIPODYSTROPHY SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, WEILL-MARCHESANI SYNDROME 2, DOMINANT, GELEOPHYSIC DYSPLASIA 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, WEILL-MARCHESANI SYNDROME 3, RECESSIVE

GDF5, ACAN, FBLN5, COL1A1, EGFR, LTBP3, TGFB1, COL1A2, TGFB3, LTBP2, NOTCH1, FBN2, CDKN1C, FBN1, TGFBR1, LTBP4, EFEMP2, BMPER, JAG1, SMAD4, IGF1, BMPR1B, TGFBR2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PARKINSON DISEASE 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, INFANTILE CEREBELLAR-RETINAL DEGENERATION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, PROTEUS SYNDROME, SOMATIC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, GLUCOCORTICOID DEFICIENCY 4, 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}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ESTROGEN RESISTANCE, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, FRENCH-CANADIAN 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 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, COFFIN-LOWRY SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, MENTAL RETARDATION, X-LINKED 19, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES

COX7B, NDUFS3, SDHD, SUCLA2, NDUFB3, UCP1, NDUFAF3, NDUFAF6, NDUFA11, SMAD4, MT-ATP6, MT-ND6, MT-ND4, DHCR7, SDHA, PDHA1, NOS3, NDUFAF2, NDUFA9, UCP3, NDUFA1, NDUFA12, COX20, CASK, PPARG, LEP, MT-CO2, SCO1, SNCA, NDUFS4, NNT, NDUFV2, SUCLG1, NDUFB9, NDUFS1, NDUFAF4, LRPPRC, NDUFB11, COX6B1, FH, MT-ND1, TACO1, ATP5A1, NDUFS8, NDUFS2, MT-CO3, MT-ND5, AKT1, NDUFA2, ACO2, NDUFS6, NDUFAF5, HSPA9, COX8A, NDUFV1, MPC1, COX14, RPS6KA3, ESR1, DDOST, SURF1, NDUFA10, INS, MT-ND3, NDUFS7, MT-CO1

MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, GM1-GANGLIOSIDOSIS, TYPE III, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS, MPS-III-A, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS IH/S, ?MUCOPOLYSACCHARIDOSIS TYPE IX, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), GM1-GANGLIOSIDOSIS, TYPE I, MUCOPOLYSACCHARIDOSIS IVA, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY)

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

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}, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, EXOSTOSES, MULTIPLE, TYPE 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, EXOSTOSES, MULTIPLE, TYPE 2, CAMURATI-ENGELMANN DISEASE, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, OMODYSPLASIA 1, ACHONDROGENESIS IB, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4

EXT2, EGFR, ACAN, SDC3, B4GALT7, SLC26A2, CHST3, B3GAT3, HSPG2, PAPSS2, NOS3, EXT1, GPC3, CHST14, TGFB1, GPC6, NOTCH1

CORNELIA DE LANGE SYNDROME 1, GM1-GANGLIOSIDOSIS, TYPE I, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OMODYSPLASIA 1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MUCOPOLYSACCHARIDOSIS, MPS-III-A, 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}, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, GM1-GANGLIOSIDOSIS, TYPE III, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS II, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MUCOPOLYSACCHARIDOSIS IH/S, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MUCOPOLYSACCHARIDOSIS IH, EXOSTOSES, MULTIPLE, TYPE 1, EXOSTOSES, MULTIPLE, TYPE 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, PROTEUS SYNDROME, SOMATIC

B4GALT7, GLB1, GPC6, EXT1, GPC3, B3GAT3, IDS, NOS3, GUSB, TAF6, AKT1, IDUA, NEU1, MARS2, SGSH, EGFR, SDC3, B3GALT6, NDST1, HSPG2, EXT2, HGSNAT

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PSEUDOACHONDROPLASIA, CZECH DYSPLASIA, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ?STICKLER SYNDROME, TYPE V, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, 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, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, MYHRE SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, WERNER SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, CAMURATI-ENGELMANN DISEASE, LEOPARD SYNDROME 3, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, PYCNODYSOSTOSIS, LOEYS-DIETZ SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE VIII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?STEEL SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OSTEOGENESIS IMPERFECTA, TYPE XVII, DIAPHANOSPONDYLODYSOSTOSIS, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, OTOPALATODIGITAL SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE IV, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ?IMMUNODEFICIENCY 22, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BRACHYDACTYLY, TYPE A1, C, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, BRUCK SYNDROME 2, FUHRMANN SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, SCLEROSTEOSIS 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, TARSAL-CARPAL COALITION SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, OSTEOGENESIS IMPERFECTA, TYPE IX, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 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}, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, 5, COLE-CARPENTER SYNDROME 1, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?MYOSCLEROSIS, CONGENITAL, ALAGILLE SYNDROME, SED CONGENITA, TRYPSINOGEN DEFICIENCY, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIC, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, MACROCEPHALY/AUTISM SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, OSTEOGENESIS IMPERFECTA, TYPE VII, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DENTAL ANOMALIES AND SHORT STATURE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, 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, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, IMAGE SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, 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}, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, GELEOPHYSIC DYSPLASIA 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, EHLERS-DANLOS SYNDROME, TYPE VI, ACROMICRIC DYSPLASIA, NOONAN SYNDROME 7, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, AGAMMAGLOBULINEMIA 3, CHONDRODYSPLASIA, GREBE TYPE, MARFAN LIPODYSTROPHY SYNDROME, LEGG-CALVE-PERTHES DISEASE, APERT SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, MARSHALL SYNDROME, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

COL10A1, LRP4, COL1A1, RAD21, CIITA, COL3A1, AGT, COL11A2, COL5A1, IGF2, WNT5A, COL6A1, NOG, DST, MMP1, DNM2, PIK3CA, NOTCH1, LTBP4, EFEMP2, BMPER, JAG1, TGFBR2, SMAD4, P3H1, COL2A1, PTEN, WNT7A, DVL3, ACAN, PLEC, AR, P4HB, CD79A, NOS3, PLOD3, MATN3, LEP, BMPR1A, COL9A2, COMP, PLOD1, MMP13, NR0B1, SPARC, TGFBR1, CRTAP, ADAMTS2, ZBTB16, GDF5, LTBP3, STAT3, DDR2, BRAF, INS, COL7A1, BMP1, SOX9, IGF1, CTSK, TGFB3, PDGFRB, LAMA3, LAMB3, LTBP2, AKT1, FBLN5, PRKDC, PPIB, IGF1R, EGFR, FBN1, COL27A1, COL1A2, FBN2, SNCA, CDKN1C, SDC3, PRSS1, MUSK, DLX5, COL6A3, RUNX2, LCK, COL6A2, FLNA, LAMC2, TGFB1, WRN, PTPN11, DVL1, COL11A1, CASK, COL5A2, COL9A3, SERPINH1, FGFR2, IL6, L1CAM, PLOD2, TRH, LRP2, MYH11, ALB, HSPG2, PIK3R1, TUFM, SHH

VERHEIJ SYNDROME, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, BARTTER SYNDROME, TYPE 2, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MULTIPLE ENDOCRINE NEOPLASIA IIB, LUJAN-FRYNS SYNDROME, GLUTARICACIDURIA, TYPE I, COLE-CARPENTER SYNDROME 2, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MOLYBDENUM COFACTOR DEFICIENCY A, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?UROCANASE DEFICIENCY, EXOSTOSES, MULTIPLE, TYPE 1, MANDIBULOACRAL DYSPLASIA, BILE ACID MALABSORPTION, PRIMARY, COFFIN-LOWRY SYNDROME, MEND SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, HYPERCHLORHIDROSIS, ISOLATED, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, MUCOPOLYSACCHARIDOSIS II, MENTAL RETARDATION, X-LINKED 102, CK SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, MECKEL SYNDROME 4, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FLOATING-HARBOR SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, MUCOPOLYSACCHARIDOSIS TYPE IIID, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, LYSYL HYDROXYLASE 3 DEFICIENCY, PARKINSON DISEASE 4, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, KLEEFSTRA SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, MALONYL-COA DECARBOXYLASE DEFICIENCY, ARTS SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, BRACHYDACTYLY, TYPE E2, GLYCOGEN STORAGE DISEASE IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS VII, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, SCHNECKENBECKEN DYSPLASIA, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLYCOGEN STORAGE DISEASE IC, NICOLAIDES-BARAITSER SYNDROME, CORNELIA DE LANGE SYNDROME 5, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, CRANIOLENTICULOSUTURAL DYSPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, TYROSINEMIA, TYPE I, NAIL-PATELLA SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, MENTAL RETARDATION, X-LINKED 72, MENKES DISEASE, MARSHALL-SMITH SYNDROME, SOTOS SYNDROME 2, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, ABCD SYNDROME, ?DIARRHEA 7, SACCHAROPINURIA, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, TYROSINEMIA, TYPE II, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, 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, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, MEDNIK SYNDROME, ?SECKEL SYNDROME 6, DONNAI-BARROW 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, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, MYHRE SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, FARBER LIPOGRANULOMATOSIS, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPOPHOSPHATASIA, INFANTILE, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, 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, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, OMODYSPLASIA 1, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, ?IMMUNODEFICIENCY 22, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CUTIS LAXA, AUTOSOMAL DOMINANT 3, DIAMOND-BLACKFAN ANEMIA 8, CORNELIA DE LANGE SYNDROME 4, CINCA SYNDROME, DYSKERATOSIS CONGENITA, X-LINKED, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, COFFIN-SIRIS SYNDROME 3, STRIATONIGRAL DEGENERATION, INFANTILE, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, ACHONDROGENESIS IB, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, JOHANSON-BLIZZARD SYNDROME, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, CORTISONE REDUCTASE DEFICIENCY 2, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, 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, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, FRUCTOSE INTOLERANCE, MEVALONIC ACIDURIA, NEPHROTIC SYNDROME, TYPE 1, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, SPONDYLOPERIPHERAL DYSPLASIA, ?MUCOPOLYSACCHARIDOSIS TYPE IX, ESTROGEN RESISTANCE, RENAL TUBULAR ACIDOSIS, DISTAL, AR, GLYCEROL KINASE DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, ALAGILLE SYNDROME, NEU-LAXOVA SYNDROME 1, APPARENT MINERALOCORTICOID EXCESS, 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, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, MUCOPOLYSACCHARIDOSIS, MPS-III-A, 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}, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, 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), STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, LEGG-CALVE-PERTHES DISEASE, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, METHYLMALONIC ACIDURIA, MUT(0) TYPE, TRANSCOBALAMIN II DEFICIENCY, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, GAUCHER DISEASE, TYPE II, REVESZ SYNDROME, GLYCOGEN STORAGE DISEASE IV, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, DIAMOND-BLACKFAN ANEMIA 6, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, PHELAN-MCDERMID 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, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, 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, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), GLYCOGEN STORAGE DISEASE VI, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, GALACTOSEMIA, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, {METABOLIC SYNDROME, PROTECTION AGAINST}, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, DIAMOND-BLACKFAN ANEMIA 9, YUNIS-VARON SYNDROME, FILS SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, CHYLOMICRON RETENTION DISEASE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, OHDO SYNDROME, X-LINKED, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, AL-RAQAD SYNDROME, ?PRECOCIOUS PUBERTY, CENTRAL, 1, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, VITAMIN D-DEPENDENT RICKETS, TYPE I, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, ETHYLMALONIC ENCEPHALOPATHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, TRYPSINOGEN DEFICIENCY, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, CITRULLINEMIA, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MARINESCO-SJOGREN SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, NIEMANN-PICK DISEASE, TYPE B, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CORNELIA DE LANGE SYNDROME 1, RENAL TUBULAR ACIDOSIS, DISTAL, AD, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, NEPHRONOPHTHISIS 15, OPITZ-KAVEGGIA SYNDROME, SENGERS SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {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, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, WATSON SYNDROME, ASPARAGINE SYNTHETASE DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, PANCREATIC LIPASE DEFICIENCY, MASA SYNDROME, CRASH SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, PEELING SKIN SYNDROME 1, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MULTIPLE SULFATASE DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, 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, INTERSTITIAL LUNG AND LIVER DISEASE, TRANSALDOLASE DEFICIENCY, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, COENZYME Q10 DEFICIENCY, PRIMARY, 7, MILLER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, GLUCOCORTICOID DEFICIENCY 4, SMITH-LEMLI-OPITZ SYNDROME, NOONAN SYNDROME 4, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, DESMOSTEROLOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, PYRUVATE KINASE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, BRUCK SYNDROME 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ALKAPTONURIA, GLUCOSE/GALACTOSE MALABSORPTION, NEU-LAXOVA SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MUCOPOLYSACCHARIDOSIS IVA, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, GALACTOSIALIDOSIS, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, GLYCOGEN STORAGE DISEASE IXC, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, ARGININEMIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, THYROID DYSHORMONOGENESIS 1, FOLATE MALABSORPTION, HEREDITARY, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, FUMARASE DEFICIENCY, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, GM1-GANGLIOSIDOSIS, TYPE I, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, SED CONGENITA, KNIEST DYSPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, GAUCHER DISEASE, TYPE III, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), CHILD SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, WILSON-TURNER SYNDROME, THYROID DYSHORMONOGENESIS 4, ANDROGEN INSENSITIVITY, ?SPASTIC PARAPLEGIA 63, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), COENZYME Q10 DEFICIENCY, PRIMARY, 2, 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, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, HAWKINSINURIA, 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, CODAS SYNDROME, 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

CA2, AMACR, SLC5A5, UCP1, GPT2, ACADS, GNAS, CIITA, AGRP, RPL5, GUSB, ENPP1, ETHE1, PCYT1A, NSDHL, DST, TERT, FH, AGK, HPGD, G6PC, PNPO, ARSE, POR, OCRL, CREBBP, HGD, RPS7, PHKB, SOX2, NDUFAF3, PHKA2, AR, P4HB, IDS, THRA, MTOR, ASAH1, MT-ND6, TAF6, ALAD, NR0B1, CBL, KCNJ1, TALDO1, GPC6, SUCLA2, AAAS, SGSH, BMP1, ABCD4, SMAD9, TNNT2, GPD1, CYP21A2, ADRB3, TP63, NDUFA10, MT-CO1, MAN1B1, BANF1, ALDOA, AGL, PRPS1, TAT, NDUFA12, DVL3, CHST14, SLC25A15, CEP290, NDUFAF2, TPM2, HDAC6, SLC2A1, SLC19A2, CTDP1, NDUFS7, NUP62, PPP2R1A, NDUFA2, MMACHC, INPPL1, MARS2, PPIB, LRPPRC, SLC5A1, UBE3A, COX15, EZH2, GALC, PEX13, SDC3, HSPA9, FAR1, ECHS1, MUSK, POMC, MTM1, ADK, POLA1, CHST3, LRP5, SLC9A1, SLC46A1, NPHP1, PIK3R2, PTPN11, HPD, HADHB, TSR2, MT-CO2, PDSS1, SRCAP, NDUFS4, PCCA, SLC35D1, ZMPSTE24, SLC6A8, B4GALT7, CTCF, MLYCD, GHRL, LIPA, DHCR24, COX7B, RDH11, PNPLA2, ALB, SOS2, MMAA, NDUFS2, SEC23A, KMT2A, MMP1, SPATA5, ACTB, MOCS2, COL1A2, DGUOK, PCCB, PTDSS1, MCCC2, NDUFB3, G6PC3, MYH7, HADH, ASPM, NDUFB11, MT-ATP6, MT-CO3, SOS1, GALNS, CYP11B1, MBTPS2, RRM2B, HSD11B1, PPARGC1B, CYB5R3, FIG4, DCPS, TNNT3, SLC26A2, ALDOB, CYP7B1, NME1, PYGL, NOTCH1, GNS, FGFR1, SUCLG1, GK, EARS2, ADAMTS10, GPX4, SOX9, MCPH1, FANCA, STAT3, BRAF, SLC26A3, AKR1D1, NDUFS3, MC4R, ALPL, SLC2A2, MMAB, IGF1, KRT5, CBS, UBR1, CYP27B1, TAZ, AASS, HRAS, HSD11B2, NDN, SMC1A, GBE1, VDR, DVL1, MUT, COQ9, LRP2, ITPA, CDSN, SNCA, DGAT1, SEC24D, QDPR, ABCB11, DHODH, POLR3B, NDUFV1, OTC, PPP2R5D, JAGN1, B3GAT3, TGFB1, TYMP, TSHR, GATA6, CFTR, MTR, SCO1, NDUFB9, IL6, PIK3R1, PUS1, PCNA, DHFR, PMPCA, SLC25A4, SLC10A2, ADA, ALDH18A1, HSPG2, ESR1, PYCR1, SURF1, C10orf2, PEX5, LMNA, ADRB2, ADSL, RAD21, IKBKG, CTSA, CYP11B2, NDUFA1, AGT, TUBGCP6, LEP, ERCC8, UCP3, DPYS, SLC37A4, PPP1R15B, FANCM, PIK3CA, MSMO1, JAG1, COX8A, COL2A1, PRSS1, NUBPL, ACTA1, SMARCA4, UROC1, DSP, CASP8, NDUFAF6, EGFR, COQ4, PSMB8, PGM1, NOS3, NR1I3, RAB39B, NNT, GALT, HADHA, PLOD3, NDUFAF4, HGSNAT, EBP, PNPLA8, SLC25A13, GLIS3, MT-ND3, DPYD, NDUFA9, MPC1, COX14, RPS6KA3, STAMBP, INS, PAM16, DDX3X, SMPD1, EXT1, SLC22A5, LMX1B, STAT1, CNTN1, GNA11, HNF4A, CEP164, BRCA1, PTHLH, ITPR2, ACACA, ATP5A1, PHGDH, PTS, DNA2, RPS10, POLD1, MCCC1, TSHB, PTEN, MTTP, BTK, FAH, SSR4, MCEE, SMARCB1, HDAC8, AGPS, DHCR7, MT-ND4, PUF60, PHKG2, SDHA, ATP7A, DKC1, POLE, GATM, GBA, CA12, ABCC9, PIP5K1C, CACNA1S, ACD, PLOD2, TRH, IYD, TCN2, MOCS1, EDNRB, NDUFAF5, AGPAT2, PSPH, PEX7, TINF2, TUFM, PNLIP, NDUFS8, PAPSS2, COL1A1, NDUFA11, DNM2, BCAP31, ACP5, GLB1, PPARG, OTX2, PRKAR1A, KISS1R, HPRT1, COX10, COX6B1, NF1, CLASP1, NEU1, COQ7, IDUA, COX20, ERCC2, SMAD4, AUH, POU1F1, BLM, CYP2R1, SMARCA2, SDHD, ASNS, FBLN5, NKX2-5, WRN, HYAL1, GCH1, RYR1, SLC34A1, UMPS, CEP63, ARFGEF2, LONP1, GLA, ASS1, ELOVL4, TGFBR1, SLC4A1, AP1S1, GCDH, RTEL1, NDST1, NFIX, TRIM32, CYP24A1, ABCC8, ARG1, LARS, GPC3, KCNJ11, GJA1, SHOC2, FTCD, INPP5E, BCS1L, SPR, PEX19, MVK, MC2R, ACAN, CASR, GCK, UROS, KRAS, GALE, PRKDC, EXT2, NDUFS1, MRPL3, IGF1R, MED12, NDUFS6, MED17, AKT1, PSAT1, ARSB, SIL1, B3GALT6, SHANK3, DDOST, LMBRD1, LYRM4, RUNX2, SUMF1, LCK, NAGS, MYH11, SMS, HCCS, HSD17B4, ASL, PDHA1, ATM, CASK, NLRP3, PRKACA, INSR, PKLR, NDUFV2, CPS1, FGFR2, SIM1, NPHS1, MARS, GNPAT, FANCC, L1CAM, MT-ND5, TACO1, RET, TBX6, PNP, ACO2, AMPD2, SAR1B, NR0B2, MT-ND1, ATR, AHCY, TGFBR2, HSD3B7, MTRR, SHH

NEPHRONOPHTHISIS 15, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ALSTROM SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, PERRY SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?SECKEL SYNDROME 6, LISSENCEPHALY 4 (WITH MICROCEPHALY), OROFACIODIGITAL SYNDROME I, SECKEL SYNDROME 5, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, LEUKODYSTROPHY, HYPOMYELINATING, 6, MECKEL SYNDROME 4, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, ?MICROHYDRANENCEPHALY, CORPUS CALLOSUM AGENESIS, ?SECKEL SYNDROME 4, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BARDET-BIEDL SYNDROME 16, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1

CDK5RAP2, PLK4, PRKACA, OFD1, CEP57, NDE1, ALMS1, CLASP1, CEP152, PPP2R1A, CEP164, CEP290, DCTN1, CEP63, TUBB4A, PCNT, CENPJ, SDCCAG8

OSTEOGENESIS IMPERFECTA, TYPE I, EXOSTOSES, MULTIPLE, TYPE 2, GALACTOSE EPIMERASE DEFICIENCY, BARAITSER-WINTER SYNDROME 1, CAMURATI-ENGELMANN DISEASE, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OMODYSPLASIA 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, 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}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?DYSTONIA, JUVENILE-ONSET, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, 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, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, ACHONDROGENESIS IB, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, EXOSTOSES, MULTIPLE, TYPE 1, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, GALACTOSEMIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM

MAN1B1, PIGA, ACAN, SLC26A2, CHST3, COL1A1, MPI, EXT1, GPC3, PGM1, TGFB1, B3GAT3, NOS3, B4GALT7, PMM2, MGAT2, ALG3, NOTCH1, GALT, GPC6, GALE, SDHD, DPM1, ALG1, DOLK, ATP5A1, PAPSS2, NEU1, COL1A2, EGFR, SDC3, MPDU1, GNE, ACTB, RFT1, HSPG2, EXT2, CHST14

BARDET-BIEDL SYNDROME 10, NEPHRONOPHTHISIS 1, JUVENILE, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, OROFACIODIGITAL SYNDROME IV, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, NEPHRONOPHTHISIS 15, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, BARDET-BIEDL SYNDROME 8, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ALSTROM SYNDROME, BARDET-BIEDL SYNDROME 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, NEPHRONOPHTHISIS 4, BARDET-BIEDL SYNDROME 7, BARDET-BIEDL SYNDROME 5, ?JOUBERT SYNDROME 22, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PERRY SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 6, ?BARDET-BIEDL SYNDROME 18, BARDET-BIEDL SYNDROME 2, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, BARDET-BIEDL SYNDROME 12, NEPHROTIC SYNDROME, TYPE 1, BARDET-BIEDL SYNDROME 3, RITSCHER-SCHINZEL SYNDROME 2, MECKEL SYNDROME 1, COACH SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BARAITSER-WINTER SYNDROME 1, SECKEL SYNDROME 5, BARDET-BIEDL SYNDROME 6, OROFACIODIGITAL SYNDROME I, MECKEL SYNDROME 2, NOONAN SYNDROME 9, ?CRANIOECTODERMAL DYSPLASIA 4, LISSENCEPHALY 4 (WITH MICROCEPHALY), ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, JOUBERT SYNDROME 18, JOUBERT SYNDROME 2, 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}, BARDET-BIEDL SYNDROME 17, CRANIOECTODERMAL DYSPLASIA 3, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, MECKEL SYNDROME 4, NEPHRONOPHTHISIS 11, BARDET-BIEDL SYNDROME 9, NICOLAIDES-BARAITSER SYNDROME, JOUBERT SYNDROME 8, INCONTINENTIA PIGMENTI, ?BARDET-BIEDL SYNDROME 19, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, BARDET-BIEDL SYNDROME 13, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, ACHONDROGENESIS, TYPE IA, CORPUS CALLOSUM AGENESIS, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, ?SECKEL SYNDROME 6, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ?MICROHYDRANENCEPHALY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, ?SECKEL SYNDROME 4, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, RETINITIS PIGMENTOSA 71, CRANIOECTODERMAL DYSPLASIA 2, BARDET-BIEDL SYNDROME 16, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SENIOR-LOKEN SYNDROME 9

SMARCA2, BBS12, ACTB, TMEM216, ALMS1, NDE1, TCTN3, BBS5, TTC21B, MKS1, PRKACA, CC2D2A, NPHP1, IKBKG, IFT172, CLUAP1, TRAF3IP1, PDE6D, HDAC6, WDR19, IFT27, CASK, IFT43, BBS4, NOS3, PPP2R1A, CEP164, BBS10, SDCCAG8, PLK4, NPHP4, RPGRIP1L, CEP57, TRIP11, CEP152, WDR35, WDR60, BBIP1, BBS1, NPHS1, BBS2, CLASP1, INPP5E, TTC8, CEP290, DCTN1, OFD1, CCDC22, MKKS, PCNT, HRAS, TMEM67, CDK5RAP2, BBS7, ARL13B, ARL6, AGPAT2, WDR34, LZTFL1, POMC, BUB1B, SOS2, TUBB4A, CEP63, DYNC2H1, CENPJ, BBS9, IFT140

BARDET-BIEDL SYNDROME 6, ?BARDET-BIEDL SYNDROME 18, BARDET-BIEDL SYNDROME 17, BARDET-BIEDL SYNDROME 10, BARDET-BIEDL SYNDROME 2, BARDET-BIEDL SYNDROME 8, BARDET-BIEDL SYNDROME 12, BARDET-BIEDL SYNDROME 4, BARDET-BIEDL SYNDROME 9, BARDET-BIEDL SYNDROME 3, BARDET-BIEDL SYNDROME 5, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, BARDET-BIEDL SYNDROME 7

BBS5, BBS12, ARL6, BBS2, BBS9, BBIP1, BBS4, BBS7, LZTFL1, BBS10, MKKS, BBS1, TTC8

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, DIAMOND-BLACKFAN ANEMIA 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, KOWARSKI SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EXOSTOSES, MULTIPLE, TYPE 1, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, COFFIN-LOWRY SYNDROME, BECKWITH-WIEDEMANN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MENTAL RETARDATION, X-LINKED 102, ANGELMAN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MUCOPOLYSACCHARIDOSIS TYPE IIID, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, LUSCAN-LUMISH SYNDROME, KLEEFSTRA SYNDROME, NOONAN SYNDROME 4, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, BRACHYDACTYLY, TYPE E2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, MUCOPOLYSACCHARIDOSIS VII, AGAMMAGLOBULINEMIA 1, EIKEN SYNDROME, SCHNECKENBECKEN DYSPLASIA, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NICOLAIDES-BARAITSER SYNDROME, CORNELIA DE LANGE SYNDROME 5, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, OGDEN SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, GALACTOSEMIA, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, LATERAL MENINGOCELE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, DYSAUTONOMIA, FAMILIAL, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MARFAN LIPODYSTROPHY SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, BRACHYOLMIA TYPE 3, WEILL-MARCHESANI SYNDROME 2, DOMINANT, MUCOPOLYSACCHARIDOSIS IVA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE VI, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, ?SECKEL SYNDROME 6, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW 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-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, MELNICK-NEEDLES SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, MEIER-GORLIN SYNDROME 1, PROPIONICACIDEMIA, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OMODYSPLASIA 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, CUTIS LAXA, AUTOSOMAL DOMINANT 3, DIAMOND-BLACKFAN ANEMIA 8, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, NOONAN SYNDROME 9, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, IMMUNODEFICIENCY 19, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, COFFIN-SIRIS SYNDROME 3, PSEUDOHYPOALDOSTERONISM, TYPE I, STRIATONIGRAL DEGENERATION, INFANTILE, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, ACHONDROGENESIS IB, GAPO SYNDROME, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, RABSON-MENDENHALL SYNDROME, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MEDNIK SYNDROME, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, EVEN-PLUS SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, FRUCTOSE INTOLERANCE, ?OSTEOGENESIS IMPERFECTA, TYPE XII, NOONAN SYNDROME 10, ALAGILLE SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, ?MUCOPOLYSACCHARIDOSIS TYPE IX, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, CORNELIA DE LANGE SYNDROME 2, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CEREBELLOFACIODENTAL SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MUCOPOLYSACCHARIDOSIS, MPS-III-A, 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}, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, GELEOPHYSIC DYSPLASIA 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, DIABETES INSIPIDUS, NEPHROGENIC, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, SENIOR-LOKEN SYNDROME 9, LEGG-CALVE-PERTHES DISEASE, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, METHYLMALONIC ACIDURIA, MUT(0) TYPE, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, DIAMOND-BLACKFAN ANEMIA 1, REVESZ SYNDROME, IMMUNODEFICIENCY 15, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 5, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, COCKAYNE SYNDROME, TYPE B, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?OSTEOGENESIS IMPERFECTA, TYPE X, 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, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, METATROPIC DYSPLASIA, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP A, OSTEOGENESIS IMPERFECTA, TYPE III, CEREBROOCULOFACIOSKELETAL SYNDROME 3, LEPRECHAUNISM, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TRANSCOBALAMIN II DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, DIAMOND-BLACKFAN ANEMIA 9, FANCONI RENOTUBULAR SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, ?DIAMOND-BLACKFAN ANEMIA 11, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, DIAMOND-BLACKFAN ANEMIA 10, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, 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, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, VITAMIN D-DEPENDENT RICKETS, TYPE I, OCULOECTODERMAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, METHYLMALONIC ACIDURIA CBLB TYPE, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CORNELIA DE LANGE SYNDROME 1, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, DE SANCTIS-CACCHIONE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 13, ACROMICRIC DYSPLASIA, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, APERT SYNDROME, MASA SYNDROME, CRASH SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE II, HETEROTAXY, VISCERAL, 5, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MULTIPLE SULFATASE DEFICIENCY, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CEREBROCOSTOMANDIBULAR SYNDROME, ATELEIOTIC DWARFISM, INTERSTITIAL LUNG AND LIVER DISEASE, ZIMMERMANN-LABAND SYNDROME 2, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, PSEUDOHYPOPARATHYROIDISM IA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, NESTOR-GUILLERMO PROGERIA SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, RUBINSTEIN-TAYBI SYNDROME, CATSHL SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, FUHRMANN SYNDROME, MUCOPOLYSACCHARIDOSIS II, KOOLEN-DE VRIES SYNDROME, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, GM1-GANGLIOSIDOSIS, TYPE I, CORNELIA DE LANGE SYNDROME 4, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, SED CONGENITA, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, PARASTREMMATIC DWARFISM, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, WRINKLY SKIN SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOCOSTAL DYSOSTOSIS 5, WILSON-TURNER SYNDROME, ANDROGEN INSENSITIVITY, NEU-LAXOVA SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, GM1-GANGLIOSIDOSIS, TYPE III, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DIAMOND-BLACKFAN ANEMIA 7, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CODAS SYNDROME, 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, SMITH-KINGSMORE SYNDROME

SLC34A1, MARS2, PHEX, CD3D, PAPSS2, ADRB2, SDHD, MAP2K2, NAA10, RAD21, MAP3K1, ACTB, GNAS, IKBKG, RPS7, COL1A2, SMARCA4, RPL5, SOS2, RPS26, ATP6V1B2, MGAT2, AGT, PTH1R, PCCB, PPARG, LEP, SDHA, SOX2, ALG3, PTHLH, WNT7A, MCCC2, UBE2A, BTK, SOS1, KMT2A, NDUFS1, SLC35D1, IGHM, MCCC1, ERCC6, IKBKAP, FANCA, PPP1R15B, GTF2H5, COL1A1, DNM2, DDOST, CDT1, PTPN11, GALNS, NOTCH3, CYP11B1, KANSL1, ERCC2, POR, GPC3, PDGFRB, SMAD4, NRAS, LONP1, COL2A1, ATP6V0A2, SF3B4, MMAA, NUBPL, SMARCB1, ACTA1, SHOC2, DVL3, ACAN, TAF1, FGFR3, KRAS, ALDOB, CIITA, LZTR1, POMC, AR, MPI, SMARCE1, PYGL, IDS, NOS3, CYP11B2, THRA, ERCC3, KCNJ1, BUB1B, CBS, MTOR, FGFR1, NOD2, SCNN1A, INPPL1, TAF6, PIK3CA, COL3A1, AKT2, MT-CO2, XRCC4, GALT, CBL, PSMB8, HGSNAT, NR1I3, MMP13, RPS19, NR0B1, GPC6, EFTUD2, VPS33B, AAAS, DVL1, TCIRG1, IL6, NDUFS2, RPS17, ERCC5, CLP1, RPS28, FCGR2A, RPS10, GUSB, TSHR, PPIB, FGF23, AVPR2, RPS6KA3, STAMBP, CYP2R1, NOTCH1, INS, MPDU1, PIK3R2, NDUFS3, PMM2, MC4R, GATA1, PIGA, MAN1B1, BANF1, TGFBR1, DDX3X, AGL, TRAF3IP1, SMARCA2, MMAB, SERPINH1, PNPT1, IGF1, SETD2, HNF4A, EXT1, CLASP1, CYP7B1, CHST14, GNS, TCN2, CEP63, INSR, CYP27B1, RAPSN, MC2R, HDAC6, CHD7, CASR, CTDP1, AP1S1, GJA1, SOX9, NUP62, PPP2R1A, ABCC9, CHMP1A, PLK4, AKT1, SLC26A2, GALE, PRKDC, EXT2, WNT5A, MRPL3, IGF1R, MUT, HDAC8, UBE3A, DOLK, ATP5A1, SLC25A4, LRP2, PHGDH, PPP2R5D, EZH2, MMACHC, POLD1, SMC1A, SNCA, JAG1, SGSH, CDKN1C, SDC3, HSPA9, GNE, PTEN, TRPV4, MUSK, ABCB11, NEU1, SNAP29, AMER1, IDUA, LMBRD1, ANTXR1, STAT3, RUNX2, SUMF1, OCLN, LCK, VDR, CHST3, PGM1, RFT1, FLNA, CYP21A2, POLR3A, NODAL, ACACA, PTS, TBX6, SP7, TRAC, ALDH18A1, DPM1, B3GAT3, TGFB1, IGF2, CENPE, ATM, CYP24A1, GATA6, LRPPRC, MTR, QDPR, STAT1, TP63, ORC1, AHCY, ZBTB16, GLB1, RPL35A, HYAL1, HMGB3, PCCA, ALG1, FGFR2, CREBBP, CTSA, C10orf2, LRP5, SARS2, MARS, RPL11, L1CAM, RPL26, PCNA, SNRPB, FBN1, B4GALT7, CTCF, SMAD9, TUFM, HRAS, EGFR, STRA6, BRF1, DNAJC3, PRKACA, POLR3B, CFTR, NR0B2, IKBKB, ATR, HSPG2, ESR1, TGFBR2, DDX58, SHH, TINF2, GH1, MTRR, PORCN, ARSB, PIK3R1

TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PROPIONICACIDEMIA, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, METHYLMALONYL-COA EPIMERASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB 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, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, PROTEUS SYNDROME, SOMATIC

PCCB, HADH, MCEE, HADHB, ECHS1, MMAA, MUT, ACADS, PCCA, HADHA, AKT1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, 5, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CAMURATI-ENGELMANN DISEASE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, 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, CZECH DYSPLASIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE II, ?STICKLER SYNDROME, TYPE V, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?MYOSCLEROSIS, CONGENITAL, ?OSTEOGENESIS IMPERFECTA, TYPE X, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, OSTEOGENESIS IMPERFECTA, TYPE XVII, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, WERNER SYNDROME, FUHRMANN SYNDROME, STICKLER SYNDROME, TYPE I, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SCLEROSTEOSIS 2, 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, MASA SYNDROME, CRASH SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EHLERS-DANLOS SYNDROME, TYPE IV, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}

SOX9, ACAN, LRP4, WNT7A, COL1A1, IGF1, COL6A2, NOS3, WRN, TGFB1, COL5A2, TGFB3, COL6A1, AGT, COL5A1, COL9A2, COL9A3, SERPINH1, COMP, COL6A3, COL3A1, SPARC, L1CAM, COL1A2, MUSK, ALB, LAMA3, MATN3, COL7A1, COL2A1, INS, SHH

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, TRYPSINOGEN DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, MENKES DISEASE, LEPRECHAUNISM, HYPOPHOSPHATASIA, CHILDHOOD, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FOLATE MALABSORPTION, HEREDITARY, TRANSCOBALAMIN II DEFICIENCY, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, DONNAI-BARROW SYNDROME, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, 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}, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MOLYBDENUM COFACTOR DEFICIENCY A, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, ACETYL-COA CARBOXYLASE DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, OPSISMODYSPLASIA, MOLYBDENUM COFACTOR DEFICIENCY B, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PROPIONICACIDEMIA, RABSON-MENDENHALL SYNDROME, CODAS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SMITH-KINGSMORE SYNDROME

TUFM, SLC2A1, NDUFS1, MMAB, SLC46A1, MTRR, MOCS2, ACP5, ALPL, ATP7A, ENPP1, CBS, PCCB, INSR, MTOR, MOCS1, PCCA, MCCC2, INPPL1, PRKDC, ACACA, SLC19A2, LONP1, C10orf2, MUT, LRP2, CBL, TCN2, MMACHC, PNPO, MCCC1, ABCD4, MTR, PRSS1, MMAA, STAMBP, LMBRD1, DHFR, CYB5R3

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PARKINSON DISEASE 4, 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 MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, INFANTILE CEREBELLAR-RETINAL DEGENERATION, MYHRE SYNDROME, LEIGH SYNDROME, FRENCH-CANADIAN 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, PROTEUS SYNDROME, SOMATIC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES

COX7B, NDUFS3, SDHD, NDUFB3, UCP1, NDUFAF3, NDUFAF6, SMAD4, MT-ND6, MT-ND4, NDUFA11, SURF1, SDHA, NDUFAF2, NDUFA9, UCP3, NDUFA1, NDUFA12, COX20, CASK, MT-CO2, SCO1, SNCA, NDUFS4, NDUFV2, NDUFB9, NDUFS1, NDUFAF4, LRPPRC, COX6B1, ATP5A1, MT-ND1, TACO1, MT-ATP6, NDUFS8, NDUFS2, MT-CO3, MT-ND5, AKT1, NDUFA2, ACO2, NDUFS6, NDUFAF5, HSPA9, COX8A, NDUFB11, COX14, DDOST, MT-CO1, NDUFA10, INS, MT-ND3, NDUFS7, NDUFV1

GLYCOGEN STORAGE DISEASE IV, ?LICHTENSTEIN-KNORR SYNDROME, MULTIPLE SULFATASE DEFICIENCY, CZECH DYSPLASIA, GLYCOGEN STORAGE DISEASE VI, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, ?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, INTERSTITIAL LUNG AND LIVER DISEASE, MYHRE SYNDROME, TRANSALDOLASE DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, LEOPARD SYNDROME 3, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, EXOSTOSES, MULTIPLE, TYPE 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NESTOR-GUILLERMO PROGERIA SYNDROME, ATAXIA-TELANGIECTASIA, 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, OMODYSPLASIA 1, LEPRECHAUNISM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, PYRUVATE KINASE DEFICIENCY, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, DIAMOND-BLACKFAN ANEMIA 6, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, MUCOPOLYSACCHARIDOSIS II, GLUCOSE/GALACTOSE MALABSORPTION, STRIATONIGRAL DEGENERATION, INFANTILE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ACHONDROGENESIS IB, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, OSTEOGENESIS IMPERFECTA, TYPE II, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE I, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, OSTEOGLOPHONIC DYSPLASIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, GALACTOSE EPIMERASE DEFICIENCY, ARTS SYNDROME, FRUCTOSE INTOLERANCE, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, GLYCOGEN STORAGE DISEASE IA, OSTEOGENESIS IMPERFECTA, TYPE IX, GLYCOGEN STORAGE DISEASE IXC, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, CAMURATI-ENGELMANN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLYCOGEN STORAGE DISEASE IC, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, GALACTOSEMIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, MUCOPOLYSACCHARIDOSIS, MPS-III-A, 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}, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, NOONAN SYNDROME 7, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, LEGG-CALVE-PERTHES DISEASE, MUCOPOLYSACCHARIDOSIS IH/S, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, EXOSTOSES, MULTIPLE, TYPE 2, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MUCOPOLYSACCHARIDOSIS IVA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

MARS2, COL1A1, RPL5, GLB1, GUSB, BTK, G6PC3, ARSB, CLASP1, NEU1, G6PC, IDUA, GALNS, ASPM, SMAD4, COL2A1, PHKB, SDHD, ACAN, GBE1, ALDOB, PHKA2, AR, PYGL, IDS, HYAL1, MTOR, FGFR1, NOS3, LEP, GALT, SLC25A13, PAPSS2, TGFBR1, SDC3, NDST1, TALDO1, TSR2, BRAF, INS, BANF1, B4GALT7, ALDOA, AGL, SLC2A2, PRPS1, IGF1, EXT1, CHST14, GNS, GCK, NUP62, PPP2R1A, AKT1, SLC26A2, INPPL1, PPIB, SLC5A1, UBE3A, LRP2, SGSH, SLC37A4, B3GALT6, GALE, HGSNAT, SUMF1, CHST3, SLC2A1, SLC9A1, PPP2R5D, NOTCH1, B3GAT3, PHKG2, PGM1, ATM, TGFB1, CASK, PRKACA, INSR, PKLR, SOS1, IL6, MARS, ZMPSTE24, GPC3, EGFR, GPC6, AAAS, HSPG2, EXT2

GALACTOSE EPIMERASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, GALACTOSEMIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM

DOLK, DPM1, GNE, PMM2, NEU1, MPI, GALT, PGM1, GALE

LOEYS-DIETZ SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, IMAGE SYNDROME, 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, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOGENESIS IMPERFECTA, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MYHRE SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, BRACHYDACTYLY, TYPE A1, C, ALAGILLE SYNDROME, DENTAL ANOMALIES AND SHORT STATURE, ACROMICRIC DYSPLASIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, 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, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, CHONDRODYSPLASIA, GREBE TYPE, MARFAN LIPODYSTROPHY SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, WEILL-MARCHESANI SYNDROME 2, DOMINANT, GELEOPHYSIC DYSPLASIA 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, WEILL-MARCHESANI SYNDROME 3, RECESSIVE

GDF5, ACAN, FBLN5, COL1A1, EGFR, LTBP3, SMAD4, TGFB1, NOTCH1, TGFB3, AGT, LTBP2, COL1A2, FBN2, NR0B1, CDKN1C, FBN1, TGFBR1, LTBP4, EFEMP2, BMPER, JAG1, TGFBR2, IGF1, BMPR1B, RUNX2

METHYLMALONIC ACIDURIA CBLB TYPE, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, TRANSCOBALAMIN II DEFICIENCY, TRYPSINOGEN DEFICIENCY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DONNAI-BARROW SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE

LRP2, ABCD4, LMBRD1, MTR, MUT, PRSS1, CBL, MMAA, MTRR, STAMBP, MMAB, C10orf2, TCN2, MMACHC

BARDET-BIEDL SYNDROME 10, BARAITSER-WINTER SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ALSTROM SYNDROME, ?SECKEL SYNDROME 6, 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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MECKEL SYNDROME 2, RITSCHER-SCHINZEL SYNDROME 2, BARDET-BIEDL SYNDROME 6, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), HUTCHINSON-GILFORD PROGERIA, DYSAUTONOMIA, FAMILIAL, BARDET-BIEDL SYNDROME 17, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), BARDET-BIEDL SYNDROME 3, ?BARDET-BIEDL SYNDROME 19, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, MANDIBULOACRAL DYSPLASIA, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, BARDET-BIEDL SYNDROME 16, OROFACIODIGITAL SYNDROME IV, ATAXIA-TELANGIECTASIA, BARDET-BIEDL SYNDROME 8, NEPHRONOPHTHISIS 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, BARDET-BIEDL SYNDROME 7, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, PERRY SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, HYPERCHLORHIDROSIS, ISOLATED, MUSCULAR DYSTROPHY, CONGENITAL, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, MENTAL RETARDATION, X-LINKED 102, DIAMOND-BLACKFAN ANEMIA 6, NOONAN SYNDROME 9, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, JOUBERT SYNDROME 2, COFFIN-SIRIS SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), ACHONDROGENESIS, TYPE IA, GALACTOSIALIDOSIS, ?MICROHYDRANENCEPHALY, CORPUS CALLOSUM AGENESIS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, NEPHRONOPHTHISIS 1, JUVENILE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, COACH SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, EVEN-PLUS SYNDROME, KLEEFSTRA SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ?JOUBERT SYNDROME 22, OCULOECTODERMAL SYNDROME, ?BARDET-BIEDL SYNDROME 18, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BARDET-BIEDL SYNDROME 12, NEPHROTIC SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, MECKEL SYNDROME 1, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SECKEL SYNDROME 5, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, LEUKODYSTROPHY, HYPOMYELINATING, 6, RESTRICTIVE DERMOPATHY, LETHAL, ESTROGEN RESISTANCE, CRANIOECTODERMAL DYSPLASIA 3, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), NICOLAIDES-BARAITSER SYNDROME, JOUBERT SYNDROME 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, BARDET-BIEDL SYNDROME 13, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, BARDET-BIEDL SYNDROME 4, ?SECKEL SYNDROME 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, LEUKODYSTROPHY, HYPOMYELINATING, 10, CRANIOECTODERMAL DYSPLASIA 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, NEPHRONOPHTHISIS 15, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BARDET-BIEDL SYNDROME 5, {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, MYHRE SYNDROME, LISSENCEPHALY 4 (WITH MICROCEPHALY), OROFACIODIGITAL SYNDROME I, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, ?CRANIOECTODERMAL DYSPLASIA 4, JOUBERT SYNDROME 18, BARDET-BIEDL SYNDROME 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, NEPHRONOPHTHISIS 11, 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, MECKEL SYNDROME 4, SENIOR-LOKEN SYNDROME 9, BARDET-BIEDL SYNDROME 9, DIAMOND-BLACKFAN ANEMIA 7, PALLISTER-HALL SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, RETINITIS PIGMENTOSA 71, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC

LMNA, TMEM216, TCTN3, MKS1, CC2D2A, PIGT, IKBKG, CTSA, RPL5, PPARG, BBS4, WDR35, NPHP4, RPGRIP1L, BBIP1, DST, PDE6D, TRIP11, CDK5RAP2, SMARCA4, TTC8, BBS2, SMAD4, CREBBP, IKBKAP, DYNC2H1, VRK1, ACTB, ALMS1, PLEC, AR, MRPS22, CLUAP1, THRA, WDR19, BUB1B, LEP, SDCCAG8, GFM1, CEP152, NR1I3, EFTUD2, SUCLA2, SLC25A13, CCDC22, MKKS, ARL6, BBS9, STAT3, INS, SOS2, ACO2, BBS12, DDX3X, TRAF3IP1, SMARCA2, TTC21B, INPP5E, MRPS16, CEP290, TSFM, HDAC6, CTDP1, PPP2R1A, CEP164, PYCR2, BRCA1, BBS10, AKT1, NDE1, IFT172, MRPL3, PLK4, NPHS1, TMEM67, DCTN1, GLI3, KISS1R, HSPA9, WDR34, POMC, POLG2, LZTFL1, TUBB4A, CENPJ, AGPAT2, IFT140, BBS5, SMARCB1, MTFMT, BBS7, NPHP1, ATM, IFT27, CASK, IFT43, PRKACA, NOS3, PCNT, CEP57, BBS1, PPARGC1B, WDR60, CA12, RPL11, OFD1, HCFC1, CLASP1, HRAS, POLG, ARL13B, POLR3B, ATR, ESR1, C10orf2, CEP63, TUFM

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, IMMUNODEFICIENCY 19, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {CELIAC DISEASE, SUSCEPTIBILITY TO}

LCK, HLA-DRB1, HLA-DQA1, CD3G, CD3D, HLA-DQB1, PTPRC, TRAC

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, CZECH DYSPLASIA, COLE-CARPENTER SYNDROME 1, TRYPSINOGEN DEFICIENCY, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, STICKLER SYNDROME, TYPE I, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, ANDROGEN INSENSITIVITY, OSTEOGENESIS IMPERFECTA, TYPE II, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, OTOPALATODIGITAL SYNDROME, TYPE I, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, STICKLER SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?STICKLER SYNDROME, TYPE V, 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, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ?MYOSCLEROSIS, CONGENITAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, WEILL-MARCHESANI SYNDROME 2, DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, OSTEOGENESIS IMPERFECTA, TYPE XVII, KNIEST DYSPLASIA, ACROMICRIC DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, TARSAL-CARPAL COALITION SYNDROME, FUHRMANN SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, CAMURATI-ENGELMANN DISEASE, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MARFAN LIPODYSTROPHY SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, PYCNODYSOSTOSIS, LEGG-CALVE-PERTHES DISEASE, STIFF SKIN SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, GELEOPHYSIC DYSPLASIA 2, OSTEOGENESIS IMPERFECTA, TYPE IV, DIAPHANOSPONDYLODYSOSTOSIS, EHLERS-DANLOS SYNDROME, TYPE IV, WEISSENBACHER-ZWEYMULLER SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, FIBROCHONDROGENESIS 1, MARSHALL SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PROTEUS SYNDROME, SOMATIC

TUFM, SOX9, LAMC2, ACAN, FBLN5, WNT7A, COL1A1, SMAD4, PTEN, CTSK, COL6A2, P4HB, TGFB1, FLNA, COL3A1, AR, DVL1, COL6A1, COL11A1, COL11A2, COL5A1, NOG, COL9A2, COL9A3, AKT1, MMP1, BMP1, WNT5A, COL6A3, IL6, COL5A2, MMP13, LRP2, SPARC, TRH, FBN1, COL10A1, COL1A2, FBN2, NOTCH1, EGFR, BMPER, PRSS1, IGF1, HSPG2, AGT, STAT3, DDR2, SHH, COL2A1, INS, RUNX2, LAMB3, COL7A1, LAMA3

SHORT SYNDROME, CLOVE SYNDROME, SOMATIC, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULOECTODERMAL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

CBL, KRAS, EGFR, NRAS, PIK3R1, SOS1, PIK3CA, HRAS

OSTEOGENESIS IMPERFECTA, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE III, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GM1-GANGLIOSIDOSIS, TYPE III, BARAITSER-WINTER SYNDROME 1, COLE-CARPENTER SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OSTEOGENESIS IMPERFECTA, TYPE IV, GM1-GANGLIOSIDOSIS, TYPE I, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NESTOR-GUILLERMO PROGERIA SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, OSTEOGENESIS IMPERFECTA, TYPE II, AMISH INFANTILE EPILEPSY SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?DYSTONIA, JUVENILE-ONSET, DIAMOND-BLACKFAN ANEMIA 6, MYHRE SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, COLE-CARPENTER SYNDROME 2, ANGELMAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, CAMURATI-ENGELMANN DISEASE, SALLA DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CHYLOMICRON RETENTION DISEASE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, GALACTOSIALIDOSIS, CRANIOLENTICULOSUTURAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM

MAN1B1, BANF1, DPM1, ACAN, COL1A1, SMAD4, NOTCH1, PIGA, MPI, P4HB, TGFB1, RFT1, CTSA, RPL5, GLB1, PMM2, MGAT2, ALG3, NOS3, BTK, STT3A, SLC17A5, IL6, ALG1, UBE3A, ST3GAL5, SEC23A, COL1A2, HRAS, DOLK, MPDU1, GNE, ACTB, SEC24D, HSPG2, NEU1, DDOST, INS, SAR1B

HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, KLEEFSTRA SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, 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}, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, 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, DIAMOND-BLACKFAN ANEMIA 6, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, HYPERCALCEMIA, INFANTILE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, SCHNECKENBECKEN DYSPLASIA, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, 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 9, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, PROTEUS SYNDROME, SOMATIC

CYP27B1, VDR, RPL5, MRPL3, NR1I3, POR, NR0B1, CYP21A2, NDUFS3, CYP7B1, CYP24A1, AHCY, POMC, CYP11B1, INS, CYP11B2, AKT1, MC2R, SLC35D1, CYP2R1

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, TRYPSINOGEN DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, MENKES DISEASE, LEPRECHAUNISM, HYPOPHOSPHATASIA, CHILDHOOD, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FOLATE MALABSORPTION, HEREDITARY, TRANSCOBALAMIN II DEFICIENCY, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, DONNAI-BARROW SYNDROME, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, 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}, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MOLYBDENUM COFACTOR DEFICIENCY A, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, ACETYL-COA CARBOXYLASE DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, OPSISMODYSPLASIA, MOLYBDENUM COFACTOR DEFICIENCY B, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PROPIONICACIDEMIA, RABSON-MENDENHALL SYNDROME, CODAS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SMITH-KINGSMORE SYNDROME

TUFM, SLC2A1, NDUFS1, MMAB, SLC46A1, MTRR, MOCS2, ACP5, ALPL, ATP7A, ENPP1, CBS, PCCB, INSR, MTOR, MOCS1, PCCA, MCCC2, INPPL1, PRKDC, ACACA, SLC19A2, LONP1, C10orf2, MUT, LRP2, CBL, TCN2, MMACHC, PNPO, MCCC1, ABCD4, MTR, PRSS1, MMAA, STAMBP, LMBRD1, DHFR, CYB5R3

LYSYL HYDROXYLASE 3 DEFICIENCY, REVESZ SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, MULTIPLE SULFATASE DEFICIENCY, COCKAYNE SYNDROME, TYPE A, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, BARTH SYNDROME, SHORT SYNDROME, MEDNIK SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, 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, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, COLE-CARPENTER SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), WEAVER SYNDROME, COLE-CARPENTER SYNDROME 2, HYPERCALCEMIA, INFANTILE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, 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, CAMURATI-ENGELMANN DISEASE, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 7, PROPIONICACIDEMIA, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, BILE ACID MALABSORPTION, PRIMARY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, METHYLMALONYL-COA EPIMERASE DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ?IMMUNODEFICIENCY 22, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, SMITH-LEMLI-OPITZ SYNDROME, OROTIC ACIDURIA, CRANIOLENTICULOSUTURAL DYSPLASIA, ATAXIA-TELANGIECTASIA, MEVALONIC ACIDURIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), MEND SYNDROME, 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, DESMOSTEROLOSIS, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), COENZYME Q10 DEFICIENCY, PRIMARY, 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PYRUVATE KINASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, CK SYNDROME, {METABOLIC SYNDROME, PROTECTION AGAINST}, LUJAN-FRYNS SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, YUNIS-VARON SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, FLOATING-HARBOR SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, 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), PRADER-WILLI SYNDROME, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, OPSISMODYSPLASIA, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, GALACTOSIALIDOSIS, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, ACETYL-COA CARBOXYLASE DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CORTISONE REDUCTASE DEFICIENCY 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, PERRAULT SYNDROME 1, AL-RAQAD SYNDROME, PARKINSON DISEASE 4, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, KLEEFSTRA SYNDROME, LOWE SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, GALACTOSE EPIMERASE DEFICIENCY, OCULOECTODERMAL SYNDROME, CORNELIA DE LANGE SYNDROME 4, TRIFUNCTIONAL PROTEIN DEFICIENCY, BRACHYDACTYLY, TYPE E2, TYROSINEMIA, TYPE I, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, OSTEOGENESIS IMPERFECTA, TYPE IX, NEPHROTIC SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, METHYLMALONIC ACIDURIA CBLB TYPE, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, COENZYME Q10 DEFICIENCY, PRIMARY, 5, GLYCEROL KINASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, NIEMANN-PICK DISEASE, TYPE A, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, 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, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MYOTUBULAR MYOPATHY, X-LINKED, CORNELIA DE LANGE SYNDROME 5, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ALAGILLE SYNDROME, 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, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, APPARENT MINERALOCORTICOID EXCESS, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, KRABBE DISEASE, ROBINOW SYNDROME, D-BIFUNCTIONAL PROTEIN DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, BARAITSER-WINTER SYNDROME 1, MALONYL-COA DECARBOXYLASE DEFICIENCY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OPITZ-KAVEGGIA SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, WILSON-TURNER SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ?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, CHILD SYNDROME, PEELING SKIN SYNDROME 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 6, WATSON SYNDROME, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, EHLERS-DANLOS SYNDROME, TYPE VI, GAUCHER DISEASE, TYPE II, GM1-GANGLIOSIDOSIS, TYPE III, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE 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, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MYHRE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, OHDO SYNDROME, X-LINKED, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, APERT SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, PANCREATIC LIPASE DEFICIENCY, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, ?DIARRHEA 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, NIEMANN-PICK DISEASE, TYPE B, LEOPARD SYNDROME 1, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, TYROSINEMIA, TYPE II, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, DENT DISEASE 2, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

LMNA, MARS2, ASAH1, KMT2A, COQ9, ADRB2, ACADS, MT-CO2, ACTB, COQ7, CTSA, SMARCA4, RPL5, CYP11B2, ALDOA, AGT, TP63, PCCB, PPARG, TAF6, PTDSS1, CASR, PRKAR1A, PCYT1A, PNLIP, NSDHL, BMP1, MYH7, OCRL, HADH, NF1, PNPLA2, COL1A1, MLYCD, HPGD, PIK3CA, SOS1, AR, CYP11B1, SIL1, MBTPS2, SMAD4, INPP5E, CREBBP, HSD11B1, UMPS, PPARGC1B, ARSE, RAD21, SEC24D, FIG4, ACTA1, DCPS, DVL3, KRAS, CBL, CASP8, EGFR, NKX2-5, MTTP, NME1, PGM1, PKLR, AGPAT2, THRA, KCNJ1, FANCC, MTOR, FGFR1, NOS3, LEP, MSMO1, HADHA, ADAMTS10, PLOD1, MVK, GK, PLOD3, NR1I3, GLA, NR0B1, EBP, PNPLA8, POR, ELOVL4, NDUFS2, MCEE, AP1S1, TAZ, TSHB, GPD1, CYP21A2, CYP24A1, STAMBP, ERCC8, NUBPL, INS, AKR1D1, FANCM, SOS2, PPP1R15B, GLB1, ARSB, GJA1, SSR4, IGF1, HNF4A, KRT5, SMPD1, CBS, PEX19, CYP27B1, STAT1, HDAC6, MCPH1, NUP62, PPP2R1A, BRCA1, NDN, PTHLH, AKT1, SOX2, GALE, HADHB, VDR, ACACA, MRPL3, HSD11B2, CFTR, MUT, TINF2, MED12, NPHS1, ACO2, MED17, LRP2, FAR1, AMACR, PPP2R5D, EZH2, CDSN, GALC, SNCA, JAG1, PEX13, FANCA, HSPA9, PTEN, ECHS1, COQ4, ABCB11, NEU1, DDOST, INPPL1, MTM1, STAT3, RUNX2, SUMF1, SAR1B, FAH, LCK, PRKDC, TAT, JAGN1, LRP5, DHCR24, SMARCB1, HDAC8, PPIB, HCCS, NOTCH1, HSD17B4, DHCR7, PIK3R2, SEC23A, P4HB, PTPN11, ATM, HSPG2, GATA6, TGFB1, CASK, ESR1, PRKACA, PDSS1, POMC, NDUFS4, PCCA, CYP2R1, CPS1, FGFR2, C10orf2, IL6, NDUFS3, GBA, GNPAT, PIP5K1C, GPX4, PCNA, TRH, CTCF, AGPS, TUFM, HRAS, LIPA, SLC10A2, DGAT1, POLR3B, NR0B2, CYP7B1, ALB, MMAA, PEX7, SHH, HSD3B7, DHFR, PEX5, PIK3R1, SRCAP

LOEYS-DIETZ SYNDROME 1, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, ATAXIA-TELANGIECTASIA, ?LICHTENSTEIN-KNORR SYNDROME, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, MUCOPOLYSACCHARIDOSIS IH/S, OMODYSPLASIA 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CZECH DYSPLASIA, GM1-GANGLIOSIDOSIS, TYPE I, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MUCOPOLYSACCHARIDOSIS, MPS-III-A, 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}, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, GM1-GANGLIOSIDOSIS, TYPE III, SPONDYLOPERIPHERAL DYSPLASIA, MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, MUCOPOLYSACCHARIDOSIS II, STICKLER SYNDROME, TYPE I, CAMURATI-ENGELMANN DISEASE, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, 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, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, ACHONDROGENESIS IB, LEGG-CALVE-PERTHES DISEASE, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, EXOSTOSES, MULTIPLE, TYPE 1, EXOSTOSES, MULTIPLE, TYPE 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, KNIEST DYSPLASIA, MUCOPOLYSACCHARIDOSIS IVA, PROTEUS SYNDROME, SOMATIC

CHST3, B4GALT7, ACAN, SLC9A1, NOTCH1, EXT1, GPC3, B3GAT3, TGFB1, CHST14, NOS3, ATM, RPL5, GLB1, GUSB, GNS, HYAL1, AKT1, SLC26A2, IDUA, SDHD, HGSNAT, NEU1, LRP2, TGFBR1, PAPSS2, MARS2, GALNS, SGSH, EGFR, SDC3, GPC6, B3GALT6, IDS, NDST1, HSPG2, EXT2, COL2A1, INS, ARSB

SHORT SYNDROME, CLOVE SYNDROME, SOMATIC, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULOECTODERMAL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

CBL, KRAS, EGFR, NRAS, PIK3R1, SOS1, PIK3CA, HRAS

LOEYS-DIETZ SYNDROME 1, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY 12, IMMUNODEFICIENCY 15, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS 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, SELECTIVE T-CELL DEFECT, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, BANNAYAN-RILEY-RUVALCABA SYNDROME, SHORT SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RABSON-MENDENHALL SYNDROME, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, CD3D, PIK3R2, IKBKG, PTPN11, HLA-DRB1, INSR, AKT1, TRAC, CBL, HLA-DQA1, CD3G, EGFR, HLA-DQB1, IRF8, TGFBR1, PIK3CA, ITCH, PTEN, ZAP70, PCNA, ESR1, PIK3R1, PTPRC, IKBKB, MALT1

MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, BEARE-STEVENSON CUTIS GYRATA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, OCULOECTODERMAL SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, ?OSTEOGENESIS IMPERFECTA, TYPE XII, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, CATSHL SYNDROME, CLOVE SYNDROME, SOMATIC, SHORT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ESTROGEN RESISTANCE, MUENKE SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, APERT SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, HYPOCHONDROPLASIA, SADDAN, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

FGFR2, STAT1, FGFR1, KRAS, IL6, FGF23, SMAD4, FGFR3, LEP, NRAS, PPP2R1A, SOX2, ESR1, PIK3R1, PLK4, SP7, STAT3, SOS1, AKT1, PIK3CA, HRAS

SHORT SYNDROME, CLOVE SYNDROME, SOMATIC, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULOECTODERMAL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

CBL, KRAS, EGFR, NRAS, PIK3R1, SOS1, PIK3CA, HRAS

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, INFANTILE CEREBELLAR-RETINAL DEGENERATION, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PARKINSON DISEASE 4, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LEIGH SYNDROME, FRENCH-CANADIAN 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, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SMITH-LEMLI-OPITZ SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES

COX7B, NDUFS3, SDHD, NDUFB3, NDUFAF3, NDUFAF6, NDUFA11, NDUFA12, MT-ND6, MT-ND4, DHCR7, SDHA, NDUFAF2, NDUFA9, NDUFA1, TPM3, MT-CO2, SCO1, SNCA, NDUFS4, NDUFV2, NDUFB9, NDUFS1, NDUFAF4, LRPPRC, COX6B1, NDUFS6, MT-ND1, TACO1, NDUFS8, NDUFS2, MT-CO3, COX20, NDUFA2, ACO2, NDUFV1, NDUFAF5, COX8A, MT-ND5, COX14, NDUFB11, SURF1, NDUFA10, MT-ND3, NDUFS7, MT-CO1

LOEYS-DIETZ SYNDROME 1, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, IMMUNODEFICIENCY 12, IMMUNODEFICIENCY 15, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, INCONTINENTIA PIGMENTI, BANNAYAN-RILEY-RUVALCABA SYNDROME, SHORT SYNDROME, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, CLOVE SYNDROME, SOMATIC, IMMUNODEFICIENCY 19, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

LCK, MALT1, HLA-DRB1, HLA-DQA1, CD3G, IRF8, PIK3R1, PTEN, CD3D, PCNA, IKBKG, HLA-DQB1, ESR1, PTPN11, TGFBR1, PIK3CA, PIK3R2, IKBKB, AKT1, TRAC

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE II, HETEROTAXY, VISCERAL, 5, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ?SECKEL SYNDROME 6, ?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, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, FANCONI RENOTUBULAR SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, CATSHL SYNDROME, DYSAUTONOMIA, FAMILIAL, CAMURATI-ENGELMANN DISEASE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LOEYS-DIETZ SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 19, SADDAN, COFFIN-LOWRY SYNDROME, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, NOONAN SYNDROME 9, SHORT SYNDROME, FUHRMANN SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, PARKINSON DISEASE 4, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, ?OSTEOGENESIS IMPERFECTA, TYPE XII, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, AGAMMAGLOBULINEMIA 1, 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, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, CORNELIA DE LANGE SYNDROME 5, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MEIER-GORLIN SYNDROME 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 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, CLOVE SYNDROME, SOMATIC, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, WILSON-TURNER SYNDROME, KOSAKI OVERGROWTH SYNDROME, 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}, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, LATERAL MENINGOCELE SYNDROME, MYHRE SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, APERT SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

SLC34A1, WNT5A, IKBKG, PIK3CA, AGT, CD3D, BTK, CDT1, POR, JAG1, TGFBR2, CREBBP, IKBKAP, PDGFRB, ACTA1, WNT7A, KRAS, SP7, SMARCE1, NOS3, THRA, BUB1B, MTOR, FGFR1, LEP, AKT2, CBL, PSMB8, IGHM, VPS33B, SOX9, TAF1, ZBTB16, FGF23, RPS6KA3, TP63, INS, SOS2, TGFBR1, GJA1, SHOC2, SMAD4, SMAD9, CEP63, RAPSN, STAT1, HDAC6, LRP5, HNF4A, PPP2R1A, PLK4, AKT1, SOX2, TRAC, HDAC8, LRP2, EZH2, SNCA, CDKN1C, NOTCH3, HSPA9, PTEN, FGFR3, POMC, AMER1, RUNX2, LCK, NRAS, FLNA, NODAL, PPP2R5D, PIK3R2, TGFB1, PTPN11, AHCY, STAT3, MAP3K1, INSR, NOTCH1, SOS1, FGFR2, IL6, UBE2A, PCNA, HRAS, EGFR, STRA6, NR0B2, HSPG2, ESR1, PIK3R1, PORCN, SHH

NEPHRONOPHTHISIS 15, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ALSTROM SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, PERRY SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?SECKEL SYNDROME 6, LISSENCEPHALY 4 (WITH MICROCEPHALY), OROFACIODIGITAL SYNDROME I, SECKEL SYNDROME 5, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, LEUKODYSTROPHY, HYPOMYELINATING, 6, MECKEL SYNDROME 4, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, ?MICROHYDRANENCEPHALY, CORPUS CALLOSUM AGENESIS, ?SECKEL SYNDROME 4, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BARDET-BIEDL SYNDROME 16, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1

CDK5RAP2, PLK4, PRKACA, OFD1, CEP57, NDE1, ALMS1, CLASP1, CEP152, PPP2R1A, CEP164, CEP290, DCTN1, CEP63, TUBB4A, PCNT, CENPJ, SDCCAG8

GM1-GANGLIOSIDOSIS, TYPE III, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MUCOPOLYSACCHARIDOSIS IH/S, GM1-GANGLIOSIDOSIS, TYPE I, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), OMODYSPLASIA 1, {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}, MUCOPOLYSACCHARIDOSIS, MPS-III-A

SGSH, SDC3, GLB1, GPC6, GUSB, HSPG2, HGSNAT, NEU1, GPC3, IDUA, IDS, NOS3

SHORT SYNDROME, CLOVE SYNDROME, SOMATIC, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULOECTODERMAL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

CBL, KRAS, EGFR, NRAS, PIK3R1, SOS1, PIK3CA, HRAS

REVESZ SYNDROME, STAR SYNDROME, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, BARAITSER-WINTER SYNDROME 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, KOWARSKI SYNDROME, MULTIPLE SULFATASE DEFICIENCY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 5, BARTH SYNDROME, IMMUNODEFICIENCY 15, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, DIAMOND-BLACKFAN ANEMIA 4, ADENYLOSUCCINASE DEFICIENCY, SELECTIVE T-CELL DEFECT, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), AMISH INFANTILE EPILEPSY 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, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, MELNICK-NEEDLES SYNDROME, ATELEIOTIC DWARFISM, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, COLE-CARPENTER SYNDROME 2, 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}, WERNER SYNDROME, PETERS-PLUS SYNDROME, CARDIOFACIOCUTANEOUS 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, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, HUTCHINSON-GILFORD PROGERIA, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, LEOPARD SYNDROME 3, BARDET-BIEDL SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SALLA DISEASE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, EXOSTOSES, MULTIPLE, TYPE 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, PSEUDOHYPOPARATHYROIDISM IA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, XERODERMA PIGMENTOSUM, GROUP B, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, WARSAW BREAKAGE SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE III, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CORNELIA DE LANGE SYNDROME 1, ATAXIA-TELANGIECTASIA, BOHRING-OPITZ SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE IV, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LEPRECHAUNISM, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ?IMMUNODEFICIENCY 22, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, OCULOECTODERMAL SYNDROME, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, DIAMOND-BLACKFAN ANEMIA 8, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MENTAL RETARDATION, X-LINKED 102, DIAMOND-BLACKFAN ANEMIA 6, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, KENNY-CAFFEY SYNDROME, TYPE 1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, DIAMOND-BLACKFAN ANEMIA 9, FILS SYNDROME, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, COFFIN-SIRIS SYNDROME 3, STRIATONIGRAL DEGENERATION, INFANTILE, CHYLOMICRON RETENTION DISEASE, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), INCONTINENTIA PIGMENTI, PRADER-WILLI SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, ?DIAMOND-BLACKFAN ANEMIA 11, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, HARTNUP DISORDER, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, DIAMOND-BLACKFAN ANEMIA 10, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, COFFIN-LOWRY SYNDROME, RIDDLE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, 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, CHIME SYNDROME, 3-M SYNDROME 1, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, EVEN-PLUS SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, CORNELIA DE LANGE SYNDROME 2, NESTOR-GUILLERMO PROGERIA SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, CORNELIA DE LANGE SYNDROME 4, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, ALAGILLE SYNDROME, WIEDEMANN-STEINER SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, LEUKODYSTROPHY, HYPOMYELINATING, 6, EHLERS-DANLOS SYNDROME, TYPE VIIC, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, MUSCULAR DYSTROPHY, CONGENITAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, CAMURATI-ENGELMANN DISEASE, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, HYPERPARATHYROIDISM, NEONATAL, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PERLMAN SYNDROME, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, 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, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, OSTEOGENESIS IMPERFECTA, TYPE III, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, LOEYS-DIETZ SYNDROME 1, ?PRECOCIOUS PUBERTY, CENTRAL, 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, WEILL-MARCHESANI-LIKE SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, KOSAKI OVERGROWTH SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 5, SIALIC ACID STORAGE DISORDER, INFANTILE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, ASPARAGINE SYNTHETASE DEFICIENCY, WOLCOTT-RALLISON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, INFANTILE CEREBELLAR-RETINAL DEGENERATION, RESTRICTIVE DERMOPATHY, LETHAL, DIABETES INSIPIDUS, NEPHROGENIC, GELEOPHYSIC DYSPLASIA 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, MYHRE SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, ACROMICRIC DYSPLASIA, 3MC SYNDROME 1, NOONAN SYNDROME 7, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, BARDET-BIEDL SYNDROME 2, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, BLOOM SYNDROME, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MARFAN LIPODYSTROPHY SYNDROME, MECKEL SYNDROME 4, WOLFRAM SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, GELEOPHYSIC DYSPLASIA 1, APERT SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, LEOPARD SYNDROME 1, DYSAUTONOMIA, FAMILIAL, DIAMOND-BLACKFAN ANEMIA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, 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, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

UCP1, FAM58A, RPS26, LMNA, COL1A1, DNAJC19, ADSL, RAD21, TBCE, ACTB, GNAS, IKBKG, RPS7, CTSA, EFTUD2, GLB1, B3GLCT, MGAT2, AGT, TP63, PMM2, PPARG, TAF6, NOTCH3, ALG3, PTHLH, CDC6, BTK, PRKDC, KISS1R, SLC17A5, ARSE, ALG1, ARSB, FANCA, MMP1, PGAP1, SOS1, PIGL, ST3GAL5, MBTPS2, BBS2, PDGFRB, SMAD4, WFS1, PIGG, IKBKAP, DNMT3B, CUL7, SF3B4, SEC24D, ACTA1, SHOC2, RPS28, ACAN, XRCC4, KRAS, CBL, CIITA, EGFR, LZTR1, CREBBP, AR, MPI, WRN, PIGT, NOS3, PARN, ERCC3, IL6, SMAD9, SKIV2L, PLOD3, ERCC2, LEP, COL1A2, AKT2, ARFGEF2, EXOSC8, KIF5C, ESR1, STT3A, DDX11, ADAMTS10, RPL5, AAAS, TGFBR1, NEU1, SLC6A19, ADAMTS2, PMPCA, CLPB, RPS10, CASR, TSHB, SMC1A, FGF23, SLC25A13, RPS6KA3, ADAMTSL2, PTPRC, NOTCH1, INS, MPDU1, PAM16, HCFC1, MAN1B1, BANF1, DDX3X, GJA1, IGF1, NUP62, EXT1, CBS, TBX6, CEP290, MC2R, ASNS, TAZ, SIL1, BCS1L, PPP2R1A, ARL6, GHRL, PLK4, NDN, PHC1, SMARCA4, VDR, ACACA, BRCA1, RPL35A, RPS17, BMPR1A, UBE3A, DOLK, ATP5A1, SLC25A4, IKBKB, DCTN1, EZH2, AKT1, JAG1, PIGO, TSHR, HSPA9, GNE, PTEN, ECHS1, POMC, BRAF, DPH1, DDOST, TUBB4A, RUNX2, SUMF1, LCK, PCSK1, SSR4, PIGA, FLNA, ZAP70, SMARCB1, MASP1, PPP2R5D, SEC23A, RNF168, ASXL1, AQP2, RFT1, PDHA1, IGF2, CENPE, ATM, CFTR, EIF2AK3, TGFB1, STAT1, STAT3, MT-CO2, ZBTB16, INSR, PTPN11, POLE, DIS3L2, BLM, SDHD, EXOSC3, FGFR2, DNMT3A, DPM1, PIGN, RPL11, RPL26, PCNA, TRH, FBN1, P4HB, ADAMTS17, CTCF, TUFM, HRAS, ACO2, RPS19, DNAJC3, SAR1B, MYH11, ATR, HSPG2, EXT2, PIK3R1, TINF2, GH1, DHFR, MTOR, SHH

BEARE-STEVENSON CUTIS GYRATA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, OCULOECTODERMAL SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, ?OSTEOGENESIS IMPERFECTA, TYPE XII, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, CATSHL SYNDROME, PROTEUS SYNDROME, SOMATIC, CLOVE SYNDROME, SOMATIC, SHORT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ESTROGEN RESISTANCE, MUENKE SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, APERT SYNDROME, HYPOCHONDROPLASIA, SADDAN, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36

FGFR2, STAT1, FGFR1, KRAS, LEP, FGF23, SMAD4, FGFR3, STAT3, NRAS, PPP2R1A, ESR1, PIK3R1, SOX2, SP7, SOS1, AKT1, PIK3CA, HRAS

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MULTIPLE SULFATASE DEFICIENCY, CZECH DYSPLASIA, ACHONDROPLASIA, ?STICKLER SYNDROME, TYPE V, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, 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, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, STICKLER SYNDROME, TYPE I, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, CATSHL SYNDROME, LEOPARD SYNDROME 3, CAMURATI-ENGELMANN DISEASE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SADDAN, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, 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, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ?IMMUNODEFICIENCY 22, CRANIOFRONTONASAL DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PHELAN-MCDERMID SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NOONAN SYNDROME 9, SHORT SYNDROME, FUHRMANN SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MYHRE SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, PARKINSON DISEASE 4, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?MYOSCLEROSIS, CONGENITAL, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SPONDYLOPERIPHERAL DYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, SPONDYLOCOSTAL DYSOSTOSIS 5, SED CONGENITA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, HYPOCHONDROPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, EHLERS-DANLOS SYNDROME, TYPE IV, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {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, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, WATSON SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, NOONAN SYNDROME 7, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, LEGG-CALVE-PERTHES DISEASE, APERT SYNDROME, MASA SYNDROME, CRASH SYNDROME, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, NRAS, ACTB, EZH2, PPP2R5D, NR0B2, WNT5A, GJA1, RPS6KA3, MAP2K2, LAMTOR2, SMAD4, PTEN, NOTCH1, COL5A2, SHOC2, PSMB8, PRNP, TGFB1, IGF2, COL3A1, SOS2, JAK3, PTPN11, COL6A1, AGT, RYR1, HLA-DRB1, FGFR1, P4HB, COL5A1, PCNA, PPP2R1A, COL7A1, LEP, NOS3, COL6A3, WNT7A, AKT1, PLEC, SHANK3, ESR1, FGFR2, COL6A2, SMARCE1, PLK4, FGF23, CBL, UBE2A, NF1, SPARC, L1CAM, INS, IKBKB, COL1A1, RET, FGFR3, PIK3CA, TWIST1, SOS1, HRAS, CACNA1S, EGFR, SNCA, SDC3, KRAS, EFNB1, SF3B4, PDGFRB, HES7, COL9A2, IGF1, COL1A2, HSPG2, BRAF, STAT3, SHH, COL2A1, COL9A3, IL2RG, RUNX2, SUMF1, MUSK, PIK3R1

BARAITSER-WINTER SYNDROME 1, NEPHRONOPHTHISIS 1, JUVENILE, OROFACIODIGITAL SYNDROME IV, COACH SYNDROME, NEPHRONOPHTHISIS 15, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, NEPHRONOPHTHISIS 4, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ALSTROM SYNDROME, CORPUS CALLOSUM AGENESIS, PERRY SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 6, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?SECKEL SYNDROME 6, MECKEL SYNDROME 1, ?DYSTONIA, JUVENILE-ONSET, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), LISSENCEPHALY 4 (WITH MICROCEPHALY), OROFACIODIGITAL SYNDROME I, MECKEL SYNDROME 2, SECKEL SYNDROME 5, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, JOUBERT SYNDROME 18, JOUBERT SYNDROME 2, NEPHRONOPHTHISIS 11, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MECKEL SYNDROME 4, BARDET-BIEDL SYNDROME 13, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, ?MICROHYDRANENCEPHALY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, ?SECKEL SYNDROME 4, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BARDET-BIEDL SYNDROME 16, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36

ACTB, TMEM216, NDE1, TCTN3, MKS1, CC2D2A, NPHP1, CEP63, PRKACA, PPP2R1A, CEP164, SDCCAG8, PLK4, NPHP4, RPGRIP1L, CEP57, CEP152, CFTR, CDK5RAP2, OFD1, CEP290, DCTN1, CLASP1, PCNT, TMEM67, PEX5, ALMS1, TUBB4A, CENPJ

INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, OCULOECTODERMAL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

NRAS, IGF1R, KRAS, IGF1, IGF2, SOS1, HRAS

OSTEOGENESIS IMPERFECTA, TYPE I, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, PARKINSON DISEASE 4, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, CAMURATI-ENGELMANN DISEASE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CZECH DYSPLASIA, KOSAKI OVERGROWTH SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, 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}, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, STICKLER SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, STICKLER SYNDROME, TYPE I, 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, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, LEGG-CALVE-PERTHES DISEASE, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE IV, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, LEOPARD SYNDROME 1, MARSHALL SYNDROME

DDR2, COL1A1, LAMC2, TGFB1, COL5A2, COL11A1, CASK, COL5A1, PTPN11, COL6A1, PIK3R1, COL3A1, MMP1, COL10A1, COL1A2, SNCA, EGFR, SDC3, PDGFRB, LAMB3, HSPG2, LAMA3, COL7A1, COL2A1, COL11A2, SHH

METHYLMALONIC ACIDURIA, MUT(0) TYPE, PROPIONICACIDEMIA, OPSISMODYSPLASIA, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, TRANSCOBALAMIN II DEFICIENCY, DONNAI-BARROW SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, ACETYL-COA CARBOXYLASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE

LRP2, LMBRD1, MTR, MUT, PCCB, ACACA, MMAA, MTRR, STAMBP, MMAB, CBL, C10orf2, MCCC1, PCCA, MMACHC, MCCC2, TCN2, INPPL1

SHORT SYNDROME, CLOVE SYNDROME, SOMATIC, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULOECTODERMAL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

CBL, KRAS, EGFR, NRAS, PIK3R1, SOS1, PIK3CA, HRAS

LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COLE-CARPENTER SYNDROME 1, CAMURATI-ENGELMANN DISEASE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, CZECH DYSPLASIA, ?STICKLER SYNDROME, TYPE V, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, BRUCK SYNDROME 2, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, ?MYOSCLEROSIS, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIC, STICKLER SYNDROME, TYPE I, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, OSTEOGENESIS IMPERFECTA, TYPE XIII, {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, OSTEOGENESIS IMPERFECTA, TYPE IV, AGAMMAGLOBULINEMIA 3, OSTEOGENESIS IMPERFECTA, TYPE VII, LEGG-CALVE-PERTHES DISEASE, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, OSTEOGENESIS IMPERFECTA, TYPE VIII, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?STEEL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IX, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, EHLERS-DANLOS SYNDROME, TYPE VI, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, MARSHALL SYNDROME, PROTEUS SYNDROME, SOMATIC

SOX9, COL10A1, ACAN, BMP1, COL1A1, COL6A2, P4HB, CD79A, COL5A2, CRTAP, COL6A1, COL11A1, CIITA, COL11A2, PLOD3, COL5A1, COL9A2, COL9A3, AKT1, DDR2, PLOD1, PPIB, COL6A3, COL3A1, PLOD2, COL27A1, TGFB1, COL1A2, SERPINH1, ADAMTS2, P3H1, COL7A1, COL2A1, PIK3R1

FANCONI ANEMIA, COMPLEMENTATION GROUP E, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, ATAXIA-TELANGIECTASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP L, FANCONI ANEMIA, COMPLEMENTATION GROUP A, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, SECKEL SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP T, FANCONI ANEMIA, COMPLEMENTATION GROUP C

ATM, FANCL, BRCA2, FANCA, FANCE, UBE2T, FANCC, ATR, BRCA1, FANCM, FANCD2

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}, PANCREATIC AGENESIS 2, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PANCREATIC AGENESIS 1, FANCONI-BICKEL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, ESTROGEN RESISTANCE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PYRUVATE KINASE DEFICIENCY, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, RUBINSTEIN-TAYBI SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MYHRE SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, RENAL CYSTS AND DIABETES SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, PROTEUS SYNDROME, SOMATIC

PCNA, SOX9, CREBBP, PTF1A, HNF1B, SHH, SMAD4, SLC2A2, NR0B2, STAT3, HNF4A, ESR1, PKLR, AKT2, NOTCH1, INS, PDX1, AKT1, NEUROG3, GCK, NOS3

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, TYROSINEMIA, TYPE I, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, GALACTOSE EPIMERASE DEFICIENCY, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ?INFANTILE LIVER FAILURE SYNDROME 1, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, FANCONI ANEMIA, COMPLEMENTATION GROUP A, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, JOHANSON-BLIZZARD SYNDROME, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, THYROID DYSHORMONOGENESIS 4, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA 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}, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, CUTIS LAXA, AUTOSOMAL DOMINANT 3, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, RESTRICTIVE DERMOPATHY, LETHAL, NEU-LAXOVA SYNDROME 1, SACCHAROPINURIA, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, MYHRE SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, ETHYLMALONIC ENCEPHALOPATHY, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, HUTCHINSON-GILFORD PROGERIA, DIAMOND-BLACKFAN ANEMIA 9, NOONAN SYNDROME 7, CARDIOFACIOCUTANEOUS SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, ALKAPTONURIA, THYROTROPIN-RELEASING HORMONE DEFICIENCY, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, LEOPARD SYNDROME 3, GLUTARICACIDURIA, TYPE I, NICOLAIDES-BARAITSER SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, HAWKINSINURIA, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, ?UROCANASE DEFICIENCY, CITRULLINEMIA, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, ARGININOSUCCINIC ACIDURIA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MANDIBULOACRAL DYSPLASIA, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPERTHYROIDISM, NONAUTOIMMUNE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, NEU-LAXOVA SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ARGININEMIA, TYROSINEMIA, TYPE II, THYROID DYSHORMONOGENESIS 1, ROBINOW SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP C

OTC, SOX9, INS, ASNS, SLC5A5, UROC1, TAT, FTCD, MTRR, QDPR, ETHE1, DVL3, ASL, CBS, NOS3, AHCY, LMNA, MTR, HPD, AASS, GPT2, PPARG, HGD, MT-CO2, PCNA, OTX2, UBR1, SMARCA2, MCCC2, ASS1, GATM, SMS, PSMB8, BRCA1, IL6, CPS1, PYCR1, SMAD4, SLC6A8, FANCA, PHGDH, TRH, FANCC, SMARCA4, IYD, SLC25A15, PAM16, GCDH, MCCC1, RPS10, TSHB, TSHR, PSPH, NAGS, ALDH18A1, AUH, POU1F1, GALE, BRAF, LARS, PSAT1, DHFR, ARG1, FAH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, CAMURATI-ENGELMANN DISEASE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, CZECH DYSPLASIA, ?STICKLER SYNDROME, TYPE V, WEISSENBACHER-ZWEYMULLER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, FUHRMANN SYNDROME, ?MYOSCLEROSIS, CONGENITAL, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, STICKLER SYNDROME, TYPE I, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, {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, OSTEOGENESIS IMPERFECTA, TYPE IV, PYCNODYSOSTOSIS, LEGG-CALVE-PERTHES DISEASE, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MARSHALL SYNDROME

WNT7A, COL6A2, DDR2, COL1A1, CTSK, TGFB1, NOTCH1, COL11A1, COL11A2, COL5A1, COL5A2, COL6A3, COL9A2, COL6A1, IL6, MMP13, COL3A1, MMP1, COL10A1, COL1A2, STAT3, COL2A1, COL9A3, INS, COL7A1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, KLEEFSTRA SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, GLYCOGEN STORAGE DISEASE VI, GM1-GANGLIOSIDOSIS, TYPE I, MUCOPOLYSACCHARIDOSIS, MPS-III-A, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, 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}, FRUCTOSE INTOLERANCE, ?MUCOPOLYSACCHARIDOSIS TYPE IX, MUCOPOLYSACCHARIDOSIS VII, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, MYHRE SYNDROME, METHYLMALONIC ACIDURIA CBLB TYPE, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, DIAMOND-BLACKFAN ANEMIA 9, GM1-GANGLIOSIDOSIS, TYPE III, HYPERCALCEMIA, INFANTILE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, MUCOPOLYSACCHARIDOSIS II, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, MUCOPOLYSACCHARIDOSIS IH/S, ACETYL-COA CARBOXYLASE DEFICIENCY, HYPERPARATHYROIDISM, NEONATAL, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, SCHNECKENBECKEN DYSPLASIA, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PROPIONICACIDEMIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, TRANSCOBALAMIN II DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, 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, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS IVA, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, PROTEUS SYNDROME, SOMATIC

TUFM, NDUFS3, SGSH, GLB1, CYP7B1, ALDOB, CBL, MMAB, QDPR, LMBRD1, PYGL, IDS, HYAL1, CYP27B1, MC2R, CYP11B2, CASR, GNS, PCCB, AHCY, MT-CO2, LEP, CYP11B1, AKT1, MCCC2, SLC35D1, IDUA, VDR, ACACA, MRPL3, C10orf2, NR1I3, MUT, NR0B1, RPL5, LRP2, NEU1, MTR, TCN2, MMACHC, GALNS, PCCA, MCCC1, RPS10, GUSB, POR, IGF1, MMAA, CYP21A2, SMAD4, POMC, CYP24A1, STAMBP, INPPL1, HGSNAT, INS, MTRR, ARSB, CYP2R1

METHYLMALONIC ACIDURIA CBLB TYPE, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, TRANSCOBALAMIN II DEFICIENCY, DONNAI-BARROW SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE

LRP2, LMBRD1, MTR, MUT, MMAA, CBL, MMAB, MTRR, STAMBP, C10orf2, TCN2, MMACHC

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ROBINOW SYNDROME, COLE-CARPENTER SYNDROME 1, CAMURATI-ENGELMANN DISEASE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, CZECH DYSPLASIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, ?STICKLER SYNDROME, TYPE V, 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, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, BRUCK SYNDROME 2, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, FUHRMANN SYNDROME, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, EHLERS-DANLOS SYNDROME, TYPE VIIC, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, STICKLER SYNDROME, TYPE I, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE XIII, {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, AGAMMAGLOBULINEMIA 3, OSTEOGENESIS IMPERFECTA, TYPE VII, TARSAL-CARPAL COALITION SYNDROME, LEGG-CALVE-PERTHES DISEASE, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, OSTEOGENESIS IMPERFECTA, TYPE VIII, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?STEEL SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, STICKLER SYNDROME, TYPE II, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, EHLERS-DANLOS SYNDROME, TYPE VI, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, EHLERS-DANLOS SYNDROME, TYPE IV, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, ?MYOSCLEROSIS, CONGENITAL, FIBROCHONDROGENESIS 1, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MARSHALL SYNDROME

TUFM, SOX9, PLEC, COL10A1, ACAN, SHH, FBLN5, WNT7A, COL1A1, COL5A2, P4HB, CD79A, COL3A1, CRTAP, DVL1, LAMC2, COL6A1, COL11A1, CIITA, COL11A2, PLOD3, P3H1, COL5A1, NOG, COL9A2, COL6A3, AKT1, BMP1, DST, PLOD1, WNT5A, COL9A3, IL6, MMP13, NR0B1, PPIB, PLOD2, COL27A1, TGFB1, PIK3CA, SERPINH1, COL6A2, ADAMTS2, COL1A2, LRP2, LAMA3, STAT3, DDR2, COL7A1, COL2A1, INS, RUNX2, LAMB3, PIK3R1

?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY

LAMC2, LAMA3, DST, LAMB3, KRT14, KRT5, PLEC

COLE-CARPENTER SYNDROME 2, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, MEDNIK SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PERRY 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, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MYHRE SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, LEUKODYSTROPHY, HYPOMYELINATING, 6, CHYLOMICRON RETENTION DISEASE, PYCNODYSOSTOSIS, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, GALACTOSIALIDOSIS, CRANIOLENTICULOSUTURAL DYSPLASIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2

SSR4, DNM2, SMAD4, POMC, CTSK, CIITA, CTSA, STAT1, CBS, BUB1B, KIF22, CENPE, TRAC, KIF5C, HLA-DQA1, HLA-DRB1, KIF2A, DCTN1, SEC23A, AP1S1, TUFM, HLA-DQB1, SAR1B, ZAP70, BMPR1B, TUBB4A, DYNC2H1, SEC24D

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, CZECH DYSPLASIA, WEISSENBACHER-ZWEYMULLER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, 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, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, FUHRMANN SYNDROME, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, STICKLER SYNDROME, TYPE I, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, OSTEOGENESIS IMPERFECTA, TYPE XIII, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, OSTEOGENESIS IMPERFECTA, TYPE IV, TARSAL-CARPAL COALITION SYNDROME, LEGG-CALVE-PERTHES DISEASE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?STEEL SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, ROBINOW SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, EHLERS-DANLOS SYNDROME, TYPE IV, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, ?MYOSCLEROSIS, CONGENITAL, FIBROCHONDROGENESIS 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MARSHALL SYNDROME

SOX9, COL10A1, PLEC, WNT7A, COL1A1, LAMC2, CIITA, COL5A2, IL6, COL11A1, COL11A2, COL5A1, NOG, COL3A1, COL6A3, DDR2, FBLN5, WNT5A, COL6A1, DVL1, MMP13, DST, COL27A1, BMP1, PIK3CA, TUFM, COL6A2, COL1A2, LRP2, NR0B1, LAMA3, STAT3, COL2A1, INS, RUNX2, LAMB3, COL7A1

BARAITSER-WINTER SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MULTIPLE SULFATASE DEFICIENCY, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SHORT SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AMISH INFANTILE EPILEPSY 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, BLOOM SYNDROME, MELNICK-NEEDLES SYNDROME, ATELEIOTIC DWARFISM, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, COLE-CARPENTER SYNDROME 2, WERNER SYNDROME, CAMURATI-ENGELMANN DISEASE, DYSAUTONOMIA, FAMILIAL, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SALLA DISEASE, PETERS-PLUS SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PSEUDOHYPOPARATHYROIDISM IA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, NESTOR-GUILLERMO PROGERIA SYNDROME, BOHRING-OPITZ SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, MENTAL RETARDATION, X-LINKED 102, DIAMOND-BLACKFAN ANEMIA 6, ANGELMAN SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, STRIATONIGRAL DEGENERATION, INFANTILE, CHYLOMICRON RETENTION DISEASE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, RIDDLE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, STIFF SKIN SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, CHIME SYNDROME, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, EVEN-PLUS SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, OCULOECTODERMAL SYNDROME, CORNELIA DE LANGE SYNDROME 4, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, WIEDEMANN-STEINER SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIC, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CRANIOLENTICULOSUTURAL DYSPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, CORNELIA DE LANGE SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, WEILL-MARCHESANI-LIKE SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SIALIC ACID STORAGE DISORDER, INFANTILE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GELEOPHYSIC DYSPLASIA 2, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MYHRE SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ACROMICRIC DYSPLASIA, GM1-GANGLIOSIDOSIS, TYPE III, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MARFAN LIPODYSTROPHY SYNDROME, GELEOPHYSIC DYSPLASIA 1, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, EXOSTOSES, MULTIPLE, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, DIAMOND-BLACKFAN ANEMIA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

NEU1, COL1A1, RAD21, ACTB, GNAS, CTSA, RPL5, GLB1, B3GLCT, PMM2, ALG3, PTHLH, BTK, SLC17A5, ARSE, ALG1, ARSB, SEC23A, PIGL, ST3GAL5, HSPA9, JAG1, SMAD4, PIGG, IKBKAP, ACAN, XRCC4, KRAS, STT3A, DPH1, MPI, P4HB, PIGT, NOS3, MTOR, PLOD3, MGAT2, COL1A2, CBL, ADAMTS10, EFTUD2, AAAS, ADAMTS2, NOTCH3, SMC1A, ADAMTSL2, INS, PIGA, MAN1B1, BANF1, DDX3X, IGF1, STAT1, NUP62, BRCA1, NDN, AKT1, CFTR, UBE3A, DOLK, FBN1, EZH2, PHC1, PIGO, DNMT3B, RPS19, GNE, SEC24D, PGAP1, DDOST, STAT3, RUNX2, SUMF1, DPM1, FLNA, ASXL1, RFT1, TGFB1, WRN, CENPE, EXT2, NOTCH1, SOS1, BLM, IL6, ADAMTS17, CTCF, HRAS, EGFR, MPDU1, SAR1B, RNF168, HSPG2, ESR1, DHFR, PIGN, PIK3R1

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {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}, ?IMMUNODEFICIENCY 22, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, CLOVE 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, IMMUNODEFICIENCY 19, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

LCK, CD3D, PPP2R5D, PIK3R2, NOS3, STAT1, AGT, MTOR, PPARG, PPP2R1A, PTPN11, AKT2, AKT1, TRAC, CBL, HLA-DQA1, CD3G, HLA-DRB1, PIK3CA, HLA-DQB1, PTEN, POMC, STAT3, PTPRC, INS, PIK3R1