MCID: TRC112
MIFTS: 13

Trochlea of the Humerus, Aplasia of

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Trochlea of the Humerus, Aplasia of

MalaCards integrated aliases for Trochlea of the Humerus, Aplasia of:

Name: Trochlea of the Humerus, Aplasia of 58
Trochlea of the Humerus Aplasia of 54
Aplasia of Trochlea of the Humerus 54
Humerus Trochlea Aplasia 60

Characteristics:

OMIM:

58
Inheritance:
? autosomal dominant


HPO:

33
trochlea of the humerus, aplasia of:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 191000
ICD10 via Orphanet 35 Q74.0
UMLS via Orphanet 75 C1860773
Orphanet 60 ORPHA3383
MedGen 43 C1860773
SNOMED-CT via HPO 70 263681008 63567004 87979003

Summaries for Trochlea of the Humerus, Aplasia of

MalaCards based summary : Trochlea of the Humerus, Aplasia of, is also known as trochlea of the humerus aplasia of. Related phenotypes are cleft palate and short humerus

Description from OMIM: 191000

Related Diseases for Trochlea of the Humerus, Aplasia of

Symptoms & Phenotypes for Trochlea of the Humerus, Aplasia of

Human phenotypes related to Trochlea of the Humerus, Aplasia of:

33
# Description HPO Frequency HPO Source Accession
1 cleft palate 33 HP:0000175
2 short humerus 33 HP:0005792

Symptoms via clinical synopsis from OMIM:

58
Mouth:
cleft palate

Limbs:
short humerus
aplasia of trochlea of humerus
flexed elbows
pronated forearms
webbed antecubital space
more

Clinical features from OMIM:

191000

Drugs & Therapeutics for Trochlea of the Humerus, Aplasia of

Search Clinical Trials , NIH Clinical Center for Trochlea of the Humerus, Aplasia of

Genetic Tests for Trochlea of the Humerus, Aplasia of

Anatomical Context for Trochlea of the Humerus, Aplasia of

Publications for Trochlea of the Humerus, Aplasia of

Variations for Trochlea of the Humerus, Aplasia of

Expression for Trochlea of the Humerus, Aplasia of

Search GEO for disease gene expression data for Trochlea of the Humerus, Aplasia of.

Pathways for Trochlea of the Humerus, Aplasia of

GO Terms for Trochlea of the Humerus, Aplasia of

Sources for Trochlea of the Humerus, Aplasia of

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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