All diseases

2 entries on 1 page. Showing entries 1 - 2.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
07105 RENU;NEDHAFA ReNU syndrome 620851 PI - - RNU4-2 - brain anomalies, distinctive facies, absent language; intellectual disability (0.91), neurodevelopmental delay (0.91), motor delay (0.61), microcephaly (0.57), drooling (0.13), proportionate short stature (0.280, generalized hypotonia (0.39), seizure (0.52), abnormality of upper lip vermillion (0.13)
00112 RP retinitis pigmentosa (RP) 268000 - 1160 898 ADCK4, ARL3, BEST1, CC2D2A, CNGB1, DHDDS, EYS, HKDC1, IDH3A, IMPG1, KIF3B, NR2E3, POC5, PRPF8, RNU4-2, RNU6-1, RNU6-2, RNU6-8, RNU6-9, SLC7A14, SMG8, TMEM216 - -
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