Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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, XY Disorders of Sex Development (D058490)
..Starting node ..Persistent Mullerian duct syndrome (C536665)
Child Nodes:
Sister Nodes:
..17-Hydroxysteroid Dehydrogenase Deficiency (C537805) 1
..46,Xy True Hermaphroditism, Sry-Related (C567575)
..Androgen-Insensitivity Syndrome (D013734) 2
..Denys-Drash Syndrome (D030321)
..Frasier Syndrome (D052159)
..Gonadal Dysgenesis, 46,XY (D006061) 18
..Kallmann Syndrome (D017436) 9
..Leydig Cell Hypoplasia (C562567)
..Lipoid congenital adrenal hyperplasia (C537027)
..Male pseudohermaphroditism due to defective LH molecule (C535692)
..Male pseudohermaphroditism/mental retardation syndrome, Verloes type (C535693)
..Nivelon Nivelon Mabille syndrome (C536123)
..Persistent Mullerian duct syndrome (C536665)
..Pseudovaginal Perineoscrotal Hypospadias (C535830)
..Urioste Martinez-Frias syndrome (C536478)
..WAGR Syndrome (D017624) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8862

Name:

Persistent Mullerian duct syndrome

Definition:

Alternative IDs:

OMIM:261550

ParentIDs:

MESH:D058490

TreeNumbers:

C12.706.316.096/C536665 |C13.351.875.253.096/C536665 |C16.131.939.316.096/C536665 |C19.391.119.096/C536665 |F03.800.399.750/C536665

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C536665
MeSH: C536665
OMIM: 261550;

Genes: AMH; AMHR2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003117	Abnormal circulating hormone concentration	HP:0040284
3	HP:0000022	Abnormality of male internal genitalia	HP:0040281
4	HP:0008689	Bilateral cryptorchidism	HP:0040284
5	HP:0000023	Inguinal hernia	HP:0040284
6	HP:0003251	Male infertility	HP:0040282

Disease Causing ClinVar Variants