Disease browser and phenotype 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

Disease Browser
Parent Node: Intellectual Disability (D008607)
Parent Node: Skin Diseases, Genetic (D012873)
Parent Node: Vitiligo (D014820)
..Starting node ..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
Child Nodes:
Sister Nodes:
..Alopecia universalis onychodystrophy vitiligo (C537056)
..AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:607836)
..AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 2 (OMIM:608391)
..AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 3 (OMIM:608392)
..AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 4 (OMIM:609400)
..Deafness, Congenital, with Vitiligo and Achalasia (C565642)
..Schrander-Stumpel Theunissen Hulsmans syndrome (C536639)
..Spastic paraplegia 23 (C536859)
..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (OMIM:606579)
..VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6 (OMIM:193200)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11642

Name:

Vitiligo, Progressive, with Mental Retardation and Urethral Duplication

Definition:

Alternative IDs:

ParentIDs:

MESH:D008607|MESH:D012873|MESH:D014820

TreeNumbers:

C10.597.606.643/C564739 |C16.320.850/C564739 |C17.800.621.440.895/C564739 |C17.800.827/C564739 |C23.888.592.604.646/C564739 |F03.550.600/C564739

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Mental disorder|Nervous system disease|Signs and symptoms|Skin disease

Reference:

MedGen: C564739
MeSH: C564739
OMIM: 277465;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0011463	Childhood onset
3	HP:0003621	Juvenile onset
4	HP:0001939	Abnormality of metabolism/homeostasis
5	HP:0000444	Convex nasal ridge
6	HP:0008706	Distal urethral duplication
7	HP:0001263	Global developmental delay
8	HP:0001510	Growth delay
9	HP:0002705	High, narrow palate
10	HP:0001249	Intellectual disability
11	HP:0005602	Progressive vitiligo

Disease Causing ClinVar Variants