Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:4765
Name:Gonadal Dysgenesis, XY Type, with Associated Anomalies
Definition:
Alternative IDs:
ParentIDs:MESH:D000015|MESH:D006061
TreeNumbers:C12.706.316.096.687/C565536 |C12.706.316.309.388/C565536 |C13.351.875.253.096.687/C565536 |C13.351.875.253.309.388/C565536 |C16.131.077/C565536 |C16.131.939.316.096.687/C565536 |C16.131.939.316.309.388/C565536 |C19.391.119.096.687/C565536 |C19.391.119.309.388/C5
Synonyms:
Slim Mappings:Congenital abnormality|Endocrine system disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C565536
MeSH: C565536
OMIM: 233430;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001999Abnormal facial shape
3 HP:0001627Abnormal heart morphology
4 HP:0030680Abnormality of cardiovascular system morphology
5 HP:0010884Acromelia
6 HP:0001769Broad foot
7 HP:0001169Broad palm
8 HP:0000204Cleft upper lip
9 HP:0000133Gonadal dysgenesis
10 HP:0001256Intellectual disability, mild
11 HP:0000202Oral cleft
12 HP:0004467Preauricular pit
13 HP:0000786Primary amenorrhea
14 HP:0002000Short columella
15 HP:0004322Short stature
Disease Causing ClinVar Variants