Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCraniofacial Abnormalities (D019465)
Parent Node:
expandHypogonadism (D007006)
Parent Node:
expandMoyamoya Disease (D009072)
..Starting node
..expandMOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM (OMIM:300845)

       Child Nodes:



 Sister Nodes: 
..expandMoyamoya disease 1 (C536991)
..expandMoyamoya disease 2 (C536992)
..expandMoyamoya disease 3 (C536993)
..expandMOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM (OMIM:300845)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7411
Name:MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM
Definition:
Alternative IDs:
ParentIDs:MESH:D007006|MESH:D009072|MESH:D019465
TreeNumbers:C05.660.207/300845 |C10.228.140.300.200.600/300845 |C10.228.140.300.510.200.737/300845 |C14.907.137.615/300845 |C14.907.253.123.620/300845 |C14.907.253.560.200.737/300845 |C16.131.621.207/300845 |C19.391.482/300845
Synonyms:CHROMOSOME Xq28 DELETION SYNDROME, 3.4-KB |MYMY4 |SYNDROMIC MOYAMOYA DISEASE
Slim Mappings:Cardiovascular disease|Congenital abnormality|Endocrine system disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: 300845
MeSH: 300845
OMIM: 300845;

Genes: AF8T;
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0001999Abnormal facial shape
3 HP:0005922Abnormal hand morphology
4 HP:0001711Abnormal left ventricle morphology
5 HP:0005288Abnormality of the nares
6 HP:0000027Azoospermia
7 HP:0001500Broad finger
8 HP:0000518CataractHP:0040283
9 HP:0001342Cerebral hemorrhage
10 HP:0000824Decreased response to growth hormone stimulation test
11 HP:0008734Decreased testicular size
12 HP:0000490Deeply set eye
13 HP:0001644Dilated cardiomyopathy
14 HP:0001263Global developmental delayHP:0040283
15 HP:0000815Hypergonadotropic hypogonadism
16 HP:0000316Hypertelorism
17 HP:0000343Long philtrum
18 HP:0000369Low-set ears
19 HP:0011834Moyamoya phenomenon
20 HP:0002216Premature graying of hair
21 HP:0000508Ptosis
22 HP:0000278Retrognathia
23 HP:0001250SeizureHP:0040283
24 HP:0009803Short phalanx of finger
25 HP:0004322Short stature
26 HP:0200055Small hand
27 HP:0002401Stroke-like episode
28 HP:0000445Wide nose
Disease Causing ClinVar Variants