All diseases

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
00826 XLID93;MRX93 intellectual developmental disorder, X-linked type 93 (MRX93) 300659 AR - - BRWD3 - intellectual disability (HP:0001249) 19/19; motor delay (HP:0001270) 18/19; speech articulation difficulties (HP:0009088) 18/19; macrocephaly at birth (HP:0004488) 12/14; behavioral disturbances (HP:0000708) 15/18; frontal bossing (HP:0002007) 14/19; large forehead (HP:0002003) 14/19; macrocephaly (HP:0000256) 14/19; large ears (HP:0000400) 11/15; neonatal hypotonia (HP:0001319) 13/19; pointed chin (HP:0000307) 13/19; protruding ear (HP:0000411) 12/19; low-set ears (HP:0000369) 9/15; shyness (HP:0100962) 8/14; cupped ears (HP:0000378) 7/16; deep set eyes (HP:0000490) 6/14; wide eyebrows (HP:0011229) 6/14; obesity (HP:0001513) 5/14; overweight (HP:0025502) 5/14; tall stature (HP:0000098) 5/14; long face (HP:0000276) 6/18; high palate (HP:0000218) 3/14; large hands (HP:0001176) 3/14; hyperactivity (HP:0000752) 4/19; absent speech (HP:0001344) 3/19; cryptorchidism (HP:0000028) 3/19; anteverted nares (HP:0000463) 2/14; cubitus valgus (HP:0002967) 2/14; falls (HP:0002527) 2/14; kyphosis (HP:0002808) 2/14; large birth weight-macrosomia (HP:0001520) 2/14; overgrowth (HP:0001548) 2/14; short finger (HP:0009381) 2/14; increased length at birth (HP:0003517) 2/16; downturned corner of the mouth (HP:0002714) 1/9; short palpebral fissures (HP:0012745) 1/9; wide nose (HP:0000445) 1/9; delayed puberty (HP:0000823) 1/14; hearing impairment (HP:0000365) 1/14; hypertelorism (HP:0000316) 1/14; ptosis (HP:0000508) 1/14; scoliosis (HP:0002650) 1/14; short stature (HP:0004322) 1/14; cleft palate (HP:0000175) 1/19
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.