MCID: CTS047
MIFTS: 9

Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

MalaCards integrated aliases for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation:

Name: Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation 58

Characteristics:

OMIM:

58
Inheritance:
x-linked


HPO:

33
cutis verticis gyrata, thyroid aplasia, and mental retardation:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 58 304200
MedGen 43 C0795848

Summaries for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

MalaCards based summary : Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation Affiliated tissues include thyroid, and related phenotypes are intellectual disability and abnormality of the endocrine system

Description from OMIM: 304200

Related Diseases for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Symptoms & Phenotypes for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Human phenotypes related to Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 abnormality of the endocrine system 33 HP:0000818
3 cutis gyrata of scalp 33 HP:0010541

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
mental retardation

Endocrine Features:
thyroid aplasia

Skin Nails Hair Skin:
cutis verticis gyrata

Clinical features from OMIM:

304200

Drugs & Therapeutics for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Search Clinical Trials , NIH Clinical Center for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Genetic Tests for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Anatomical Context for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

MalaCards organs/tissues related to Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation:

42
Thyroid

Publications for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Variations for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Expression for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Search GEO for disease gene expression data for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation.

Pathways for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

GO Terms for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

Sources for Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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