MCID: RSP020
MIFTS: 9

Respiratory Underresponsiveness to Hypoxia and Hypercapnia

Aliases & Classifications for Respiratory Underresponsiveness to Hypoxia and Hypercapnia

MalaCards integrated aliases for Respiratory Underresponsiveness to Hypoxia and Hypercapnia:

Name: Respiratory Underresponsiveness to Hypoxia and Hypercapnia 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
respiratory underresponsiveness to hypoxia and hypercapnia:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 56 267480
MedGen 41 C1849430

Summaries for Respiratory Underresponsiveness to Hypoxia and Hypercapnia

MalaCards based summary : Respiratory Underresponsiveness to Hypoxia and Hypercapnia Affiliated tissues include lung, and related phenotypes are respiratory insufficiency and respiratory failure

More information from OMIM: 267480

Related Diseases for Respiratory Underresponsiveness to Hypoxia and Hypercapnia

Symptoms & Phenotypes for Respiratory Underresponsiveness to Hypoxia and Hypercapnia

Human phenotypes related to Respiratory Underresponsiveness to Hypoxia and Hypercapnia:

31
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency 31 HP:0002093
2 respiratory failure 31 HP:0002878
3 hypercapnia 31 HP:0012416

Symptoms via clinical synopsis from OMIM:

56
Resp:
respiratory failure
normal lung function
deficient ventilatory responses to hypoxia and hypercapnia

Clinical features from OMIM:

267480

Drugs & Therapeutics for Respiratory Underresponsiveness to Hypoxia and Hypercapnia

Search Clinical Trials , NIH Clinical Center for Respiratory Underresponsiveness to Hypoxia and Hypercapnia

Genetic Tests for Respiratory Underresponsiveness to Hypoxia and Hypercapnia

Anatomical Context for Respiratory Underresponsiveness to Hypoxia and Hypercapnia

MalaCards organs/tissues related to Respiratory Underresponsiveness to Hypoxia and Hypercapnia:

40
Lung

Publications for Respiratory Underresponsiveness to Hypoxia and Hypercapnia

Articles related to Respiratory Underresponsiveness to Hypoxia and Hypercapnia:

# Title Authors PMID Year
1
Hereditary aspects of decreased hypoxic response. 56
566281 1978
2
Respiratory failure associated with familial depression of ventilatory response to hypoxia and hypercapnia. 56
958289 1976
3
Ventilatory response to carbon dioxide in young athletes: a family study. 56
1267256 1976
4
Insensitivity of respiratory centre to carbon dioxide in the Enga people of New Guinea. 56
4143540 1971
5
Ventilatory control in the athlete. 56
5538798 1971

Variations for Respiratory Underresponsiveness to Hypoxia and Hypercapnia

Expression for Respiratory Underresponsiveness to Hypoxia and Hypercapnia

Search GEO for disease gene expression data for Respiratory Underresponsiveness to Hypoxia and Hypercapnia.

Pathways for Respiratory Underresponsiveness to Hypoxia and Hypercapnia

GO Terms for Respiratory Underresponsiveness to Hypoxia and Hypercapnia

Sources for Respiratory Underresponsiveness to Hypoxia and Hypercapnia

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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