These phenotypes are assigned using a mapping, provided by HPO, between HPO terms and OMIM IDs. The OMIM IDs for each gene disorder are supplied by ClinVar.
Phenotype Code
Hydrocephalus HP:0000238
Epicanthus HP:0000286
Hypertelorism HP:0000316
Smooth philtrum HP:0000319
Facial asymmetry HP:0000324
Broad forehead HP:0000337
Downslanted palpebral fissures HP:0000494
Microphthalmia HP:0000568
Cutis marmorata HP:0000965
Syndactyly HP:0001159
Intellectual disability HP:0001249
Seizures HP:0001250
Muscular hypotonia HP:0001252
Global developmental delay HP:0001263
Generalized hypotonia HP:0001290
Megalencephaly HP:0001355
Joint laxity HP:0001388
Hemihypertrophy HP:0001528
Overgrowth HP:0001548
Ventricular septal defect HP:0001629
Splenomegaly HP:0001744
Sandal gap HP:0001852
Leukemia HP:0001909
Ventriculomegaly HP:0002119
Polymicrogyria HP:0002126
Tethered cord HP:0002144
Cavum septum pellucidum HP:0002389
Scoliosis HP:0002650
Nephroblastoma HP:0002667
Meningioma HP:0002858
Macrodactyly HP:0004099
Cranial hyperostosis HP:0004437
Progressive macrocephaly HP:0004481
Depressed nasal bridge HP:0005280
Renal hypoplasia/aplasia HP:0008678
Large earlobe HP:0009748
Spinal dysraphism HP:0010301
Polydactyly HP:0010442
Lipoma HP:0012032
Venous malformation HP:0012721
Capillary malformation HP:0025104
Lower limb asymmetry HP:0100559
Hernia HP:0100790