MCID: TRC112
MIFTS: 11

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 57
Trochlea of the Humerus Aplasia of 20
Aplasia of Trochlea of the Humerus 20
Humerus Trochlea Aplasia 58

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
? autosomal dominant


HPO:

31
trochlea of the humerus, aplasia of:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 191000
ICD10 via Orphanet 33 Q74.0
UMLS via Orphanet 72 C1860773
Orphanet 58 ORPHA3383
MedGen 41 C1860773
SNOMED-CT via HPO 68 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

More information 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:

31
# Description HPO Frequency HPO Source Accession
1 cleft palate 31 HP:0000175
2 short humerus 31 HP:0005792

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Mouth:
cleft palate

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

Clinical features from OMIM®:

191000 (Updated 05-Mar-2021)

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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