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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: Waardenburg Syndrome (D014849)
..Starting node ..ABCD syndrome (C535334)
Child Nodes:
Sister Nodes:
..ABCD syndrome (C535334)
..Anophthalmos with limb anomalies (C537769)
..Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome (C538657)
..Waardenburg syndrome type 2 (C536463)
..Waardenburg syndrome type 2A (C536464)
..Waardenburg syndrome type 2B (C536465)
..Waardenburg Syndrome, Type 2C (C564684)
..Waardenburg Syndrome, Type 2D (C563839)
..Waardenburg syndrome, type 4 (C536467) 1
..Waardenburg Syndrome, Type 4b (C567680)
..Waardenburg Syndrome, Type 4c (C567679)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

Name:

ABCD syndrome

Definition:

Alternative IDs:

OMIM:600501

ParentIDs:

MESH:D014849

TreeNumbers:

C16.131.077.938/C535334

Synonyms:

ABCDS |Albinism, Black lock, Cell migration disorder of the neurocytes of the gut, and Deafness

Slim Mappings:

Congenital abnormality

Reference:

MedGen: C535334
MeSH: C535334
OMIM: 600501;

Genes: EDNRB;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0006958	Abnormal auditory evoked potentials
3	HP:0002251	Aganglionic megacolon
4	HP:0001022	Albinism
5	HP:0000365	Hearing impairment
6	HP:0007894	Hypopigmentation of the fundus
7	HP:0001520	Large for gestational age

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_000115.3(EDNRB):c.601C>T (p.Arg201Ter)	-1	-	Pathogenic	104894391	RCV000018120;	N	MedGen:C1838099,OMIM:600501	13	78477491	78477491	NM_000115.3:c.601C>T	NP_000106.1:p.Arg201Ter	NC_000013.10:g.78477491G>A	OMIM Allelic Variant:131244.0008	C1838099 600501 ABCD syndrome