MCID: CHR347

Chrondrodysplasia, Acromesomelic, with Genital Anomalies malady

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Summaries for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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MalaCards based summary: Chrondrodysplasia, Acromesomelic, with Genital Anomalies and has symptoms including An important gene associated with Chrondrodysplasia, Acromesomelic, with Genital Anomalies is BMPR1B (bone morphogenetic protein receptor, type IB).

Description from OMIM:46 609441

Aliases & Classifications for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Chrondrodysplasia, Acromesomelic, with Genital Anomalies, Aliases & Descriptions:

Name: Chrondrodysplasia, Acromesomelic, with Genital Anomalies 46


Related Diseases for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Symptoms for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Symptoms by clinical synopsis from OMIM:

609441

Clinical features from OMIM:

609441

HPO human phenotypes related to Chrondrodysplasia, Acromesomelic, with Genital Anomalies:

(show all 19)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hypoplasia of the uterus HP:0000013
3 primary amenorrhea HP:0000786
4 hypergonadotropic hypogonadism HP:0000815
5 talipes equinovarus HP:0001762
6 broad foot HP:0001769
7 short toe HP:0001831
8 fibular aplasia HP:0002990
9 hypoplasia of the ulna HP:0003022
10 widened proximal tibial metaphyses HP:0005028
11 aplasia/hypoplasia involving the metacarpal bones HP:0005914
12 tarsal synostosis HP:0008368
13 disproportionate short-limb short stature HP:0008873
14 short finger HP:0009381
15 radial deviation of finger HP:0009466
16 carpal synostosis HP:0009702
17 short phalanx of finger HP:0009803
18 aplasia of the proximal phalanges of the hand HP:0010242
19 short femoral neck HP:0100864

Drugs & Therapeutics for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Drug clinical trials:

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Search NIH Clinical Center for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

Genetic Tests for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Anatomical Context for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Animal Models for Chrondrodysplasia, Acromesomelic, with Genital Anomalies or affiliated genes

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Publications for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Variations for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Clinvar genetic disease variations for Chrondrodysplasia, Acromesomelic, with Genital Anomalies:

6
id Gene Name Type Significance SNP ID Assembly Location
1BMPR1BBMPR1B, 8-BP DEL, NT359deletionPathogenic

Expression for genes affiliated with Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Expression patterns in normal tissues for genes affiliated with Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Pathways for genes affiliated with Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Compounds for genes affiliated with Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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GO Terms for genes affiliated with Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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Products for genes affiliated with Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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  • Antibodies
  • Proteins
  • Lysates

Sources for Chrondrodysplasia, Acromesomelic, with Genital Anomalies

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet