PhenPathDB

The PhenPathDB organizes phenotypes in clusters following the classification provided by OMIM and HPO, summarized in the tables below.
("General analysis") is a link to the specific phenotype and related diseases, genes and fucntional annotations.
Each cluster has been also compared to the others looking for shared diseases, genes and functional annotations, and there is a link to the results of the comparison ("Intersection analysis").

OMIM Clinical Synopsis classification

Phenotype clusters General analysis Intersection analysis # diseases # genes
ABDOMEN general analysis intersection analysis 1102 1204
CARDIOVASCULAR general analysis intersection analysis 884 911
CHEST general analysis intersection analysis 469 443
ENDOCRINE FEATURES general analysis intersection analysis 395 420
GENITOURINARY general analysis intersection analysis 1018 1018
GROWTH general analysis intersection analysis 1185 1154
HEAD AND NECK general analysis intersection analysis 2412 2114
HEMATOLOGY general analysis intersection analysis 463 489
IMMUNOLOGY general analysis intersection analysis 303 316
METABOLIC FEATURES general analysis intersection analysis 297 393
MUSCLE AND SOFT TISSUES general analysis intersection analysis 918 867
NEOPLASIA general analysis intersection analysis 216 280
NEUROLOGIC general analysis intersection analysis 2154 1986
PRENATAL MANIFESTATIONS general analysis intersection analysis 199 216
RESPIRATORY general analysis intersection analysis 697 785
SKELETAL general analysis intersection analysis 1492 1290
SKIN NAILS AND HAIR general analysis intersection analysis 1082 1019
VOICE general analysis intersection analysis 122 125

HPO Phenotypic Abnormality subclassification

Phenotype clusters General analysis Intersection analysis # diseases # genes
ABNORMALITY OF THE MUSCULATURE general analysis intersection analysis 1479 1343
ABNORMALITY OF THE RESPIRATORY SYSTEM general analysis intersection analysis 686 795
ABNORMALITY OF HEAD OR NECK general analysis intersection analysis 1767 1585
ABNORMALITY OF THE GENITOURINARY SYSTEM general analysis intersection analysis 1120 1154
ABNORMALITY OF THE CARDIOVASCULAR SYSTEM general analysis intersection analysis 1114 1101
ABNORMALITY OF THE IMMUNE SYSTEM general analysis intersection analysis 769 845
ABNORMALITY OF THE NERVOUS SYSTEM general analysis intersection analysis 2351 2127
ABNORMALITY OF THE VOICE general analysis intersection analysis 109 136
ABNORMALITY OF BLOOD AND BLOOD-FORMING TISSUES general analysis intersection analysis 666 710
ABNORMALITY OF METABOLISM/HOMEOSTASIS general analysis intersection analysis 1307 1331
ABNORMALITY OF THE BREAST general analysis intersection analysis 117 145
GROWTH ABNORMALITY general analysis intersection analysis 1151 1123
CONSTITUTIONAL SYMPTOM general analysis intersection analysis 151 152
ABNORMALITY OF THE DIGESTIVE SYSTEM general analysis intersection analysis 1174 1295
NEOPLASM general analysis intersection analysis 349 422
ABNORMALITY OF THE THORACIC CAVITY general analysis intersection analysis 0 0
ABNORMALITY OF PRENATAL DEVELOPMENT OR BIRTH general analysis intersection analysis 200 223
ABNORMALITY OF THE EYE general analysis intersection analysis 1691 1515
ABNORMALITY OF THE EAR general analysis intersection analysis 913 910
ABNORMALITY OF THE SKELETAL SYSTEM general analysis intersection analysis 1821 1588
ABNORMALITY OF LIMBS general analysis intersection analysis 1173 972
ABNORMALITY OF CONNECTIVE TISSUE general analysis intersection analysis 594 554
ABNORMALITY OF THE ENDOCRINE SYSTEM general analysis intersection analysis 506 519
ABNORMALITY OF THE INTEGUMENT general analysis intersection analysis 1193 1160