MCID: CRV070
MIFTS: 9

Cervical Hypertrichosis with Underlying Kyphoscoliosis

Aliases & Classifications for Cervical Hypertrichosis with Underlying Kyphoscoliosis

MalaCards integrated aliases for Cervical Hypertrichosis with Underlying Kyphoscoliosis:

Name: Cervical Hypertrichosis with Underlying Kyphoscoliosis 58
Hypertrichosis, Posterior Cervical, with Underlying Kyphoscoliosis 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cervical hypertrichosis with underlying kyphoscoliosis:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 58 117850
MedGen 43 C1861695
SNOMED-CT via HPO 70 263681008 405773007

Summaries for Cervical Hypertrichosis with Underlying Kyphoscoliosis

MalaCards based summary : Cervical Hypertrichosis with Underlying Kyphoscoliosis, also known as hypertrichosis, posterior cervical, with underlying kyphoscoliosis, is related to hypertrichosis. Related phenotypes are kyphoscoliosis and anterior cervical hypertrichosis

Description from OMIM: 117850

Related Diseases for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Diseases related to Cervical Hypertrichosis with Underlying Kyphoscoliosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypertrichosis 10.2

Symptoms & Phenotypes for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Human phenotypes related to Cervical Hypertrichosis with Underlying Kyphoscoliosis:

33
# Description HPO Frequency HPO Source Accession
1 kyphoscoliosis 33 HP:0002751
2 anterior cervical hypertrichosis 33 HP:0004535
3 sacral hypertrichosis 33 HP:0004532
4 lumbar hypertrichosis 33 HP:0011913
5 thoracic hypertrichosis 33 HP:0011914

Symptoms via clinical synopsis from OMIM:

58
Hair:
congenital cervical hypertrichosis
sacral, lumbar, or thoracic localized hypertrichosis

Spine:
underlying kyphoscoliosis

Clinical features from OMIM:

117850

Drugs & Therapeutics for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Search Clinical Trials , NIH Clinical Center for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Genetic Tests for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Anatomical Context for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Publications for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Articles related to Cervical Hypertrichosis with Underlying Kyphoscoliosis:

# Title Authors Year
1
Familial cervical hypertrichosis with underlying kyphoscoliosis. ( 2754057 )
1989

Variations for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Expression for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Search GEO for disease gene expression data for Cervical Hypertrichosis with Underlying Kyphoscoliosis.

Pathways for Cervical Hypertrichosis with Underlying Kyphoscoliosis

GO Terms for Cervical Hypertrichosis with Underlying Kyphoscoliosis

Sources for Cervical Hypertrichosis with Underlying Kyphoscoliosis

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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