MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: unclassified primitive or secondary maculopathy (MONDO:0020244)
..Starting node ..foveal hypoplasia-presenile cataract syndrome ()
Child Nodes:
Sister Nodes:
..autosomal dominant osteopetrosis 2 ()
..Bardet-Biedl syndrome ()
..cone-rod dystrophy ()
..congenital hypotrichosis with juvenile macular dystrophy ()
..cystoid macular edema ()
..enhanced S-cone syndrome ()
..Farber lipogranulomatosis ()
..foveal hypoplasia-presenile cataract syndrome ()
..galactosialidosis ()
..GM1 gangliosidosis ()
..Hermansky-Pudlak syndrome 2 ()
..infantile Refsum disease ()
..Krabbe disease ()
..Laurence-Moon syndrome ()
..Leigh disease ()
..metachromatic leukodystrophy ()
..mucolipidosis type IV ()
..neuronal ceroid lipofuscinosis ()
..Niemann-Pick disease type C ()
..Rubinstein-Taybi syndrome ()
..Sjogren-Larsson syndrome ()
..Sorsby's fundus dystrophy ()
..X-linked retinoschisis ()
..Zellweger syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16395
Name:	foveal hypoplasia-presenile cataract syndrome
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	O'Donnell-Pappas syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal