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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: 46, XX Disorders of Sex Development (D058489)
..Starting node ..Pseudohermaphroditism, Female, with Skeletal Anomalies (C564869)
Child Nodes:
Sister Nodes:
..46, XX Testicular Disorders of Sex Development (D058531) 3
..46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
..Aromatase deficiency (C537436)
..Cortisone reductase deficiency (C536447)
..Familial gynecomastia, due to increased aromatase activity (C000591739)
..Gonadal Dysgenesis, 46,XX (D023961) 8
..Hyperandrogenism (D017588) 3
..Michels Caskey syndrome (C537576)
..Mullerian aplasia (C537371) 1
..Pseudohermaphroditism, Female, with Skeletal Anomalies (C564869)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9414

Name:

Pseudohermaphroditism, Female, with Skeletal Anomalies

Definition:

Alternative IDs:

ParentIDs:

MESH:D058489

TreeNumbers:

C12.706.316.064/C564869 |C13.351.875.253.064/C564869 |C16.131.939.316.064/C564869 |C19.391.119.064/C564869 |F03.800.399.500/C564869

Synonyms:

Slim Mappings:

Congenital abnormality|Endocrine system disease|Mental disorder|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C564869
MeSH: C564869
OMIM: 264270;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000062	Ambiguous genitalia
3	HP:0008665	Clitoral hypertrophy
4	HP:0000327	Hypoplasia of the maxilla
5	HP:0000786	Primary amenorrhea
6	HP:0005790	Short mandibular condyles
7	HP:0005856	Ulnar radial head dislocation

Disease Causing ClinVar Variants