Aliases & Classifications for Testes, Rudimentary

MalaCards integrated aliases for Testes, Rudimentary:

Name: Testes, Rudimentary 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
testes, rudimentary:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 56 273150
MedGen 41 C1848901
SNOMED-CT via HPO 68 258211005 276411001 370999003

Summaries for Testes, Rudimentary

MalaCards based summary : Testes, Rudimentary Affiliated tissues include testes, and related phenotypes are hypergonadotropic hypogonadism and decreased testicular size

More information from OMIM: 273150

Related Diseases for Testes, Rudimentary

Symptoms & Phenotypes for Testes, Rudimentary

Human phenotypes related to Testes, Rudimentary:

31 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 hypergonadotropic hypogonadism 31 HP:0000815
2 decreased testicular size 31 HP:0008734

Symptoms via clinical synopsis from OMIM:

56
Endocrine:
hypergonadotropic hypogonadism

Lab:
normal chromosomes

G U:
small testes
small external genitalia

Clinical features from OMIM:

273150

Drugs & Therapeutics for Testes, Rudimentary

Search Clinical Trials , NIH Clinical Center for Testes, Rudimentary

Genetic Tests for Testes, Rudimentary

Anatomical Context for Testes, Rudimentary

MalaCards organs/tissues related to Testes, Rudimentary:

40
Testes

Publications for Testes, Rudimentary

Articles related to Testes, Rudimentary:

(showing 4, show less)
# Title Authors PMID Year
1
The syndrome of rudimentary testes: occurrence in five siblings. 56
12119933 1974
2
Variants of embryonic testicular dysgenesis: bilateral anorchia and the syndrome of rudimentary testes. 56
13867602 1962
3
47,XYY karyotype and normal SRY in a patient with a female phenotype. 61
11453532 2001
4
A new male pseudohermaphrodite rat mutant with androgen deficiency. 61
3141619 1988

Variations for Testes, Rudimentary

Expression for Testes, Rudimentary

Search GEO for disease gene expression data for Testes, Rudimentary.

Pathways for Testes, Rudimentary

GO Terms for Testes, Rudimentary

Sources for Testes, Rudimentary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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