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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: Abnormalities, Multiple (D000015)
Parent Node: Meningioma (D008579)
..Starting node ..Hunter-Macdonald Syndrome (C567445)
Child Nodes:
Sister Nodes:
..Hunter-Macdonald Syndrome (C567445)
..Meningioma, familial (C537443)
..Radiation induced meningioma (C536266)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5282

Name:

Hunter-Macdonald Syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D000015|MESH:D008579

TreeNumbers:

C04.557.580.520/C567445 |C04.557.645.520/C567445 |C04.588.614.250.580.500/C567445 |C10.551.240.500.500/C567445 |C16.131.077/C567445

Synonyms:

Slim Mappings:

Cancer|Congenital abnormality|Nervous system disease

Reference:

MedGen: C567445
MeSH: C567445
OMIM: 611962;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0004691	2-3 toe syndactyly
3	HP:0001659	Aortic regurgitation
4	HP:0001647	Bicuspid aortic valve
5	HP:0000581	Blepharophimosis
6	HP:0000248	Brachycephaly
7	HP:0012385	Camptodactyly
8	HP:0004209	Clinodactyly of the 5th finger
9	HP:0000405	Conductive hearing impairment
10	HP:0006824	Cranial nerve paralysis
11	HP:0002967	Cubitus valgus
12	HP:0000270	Delayed cranial suture closure
13	HP:0002750	Delayed skeletal maturation
14	HP:0002656	Epiphyseal dysplasia
15	HP:0000348	High forehead
16	HP:0000822	Hypertension
17	HP:0000047	Hypospadias
18	HP:0000023	Inguinal hernia
19	HP:0009473	Joint contracture of the hand
20	HP:0000239	Large fontanelles
21	HP:0000472	Long neck
22	HP:0000272	Malar flattening
23	HP:0002858	Meningioma
24	HP:0001840	Metatarsus adductus
25	HP:0011800	Midface retrusion
26	HP:0001653	Mitral regurgitation
27	HP:0001634	Mitral valve prolapse
28	HP:0000545	Myopia
29	HP:0000341	Narrow forehead
30	HP:0001643	Patent ductus arteriosus
31	HP:0000768	Pectus carinatum
32	HP:0003088	Premature osteoarthritis
33	HP:0010584	Pseudoepiphyses
34	HP:0000508	Ptosis
35	HP:0002650	Scoliosis
36	HP:0000407	Sensorineural hearing impairment
37	HP:0012745	Short palpebral fissure
38	HP:0000322	Short philtrum
39	HP:0004322	Short stature
40	HP:0000219	Thin upper lip vermilion
41	HP:0001537	Umbilical hernia
42	HP:0000582	Upslanted palpebral fissure

Disease Causing ClinVar Variants