MCID: LWR017
MIFTS: 12

Lower Limb Malformation-Hypospadias Syndrome

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Lower Limb Malformation-Hypospadias Syndrome

MalaCards integrated aliases for Lower Limb Malformation-Hypospadias Syndrome:

Name: Lower Limb Malformation-Hypospadias Syndrome 58
Fried-Goldberg-Mundel Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
lower limb malformation-hypospadias syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

UMLS via Orphanet 72 C2930962
Orphanet 58 ORPHA2487

Summaries for Lower Limb Malformation-Hypospadias Syndrome

MalaCards based summary : Lower Limb Malformation-Hypospadias Syndrome, is also known as fried-goldberg-mundel syndrome. Affiliated tissues include spleen and heart, and related phenotypes are hypospadias and abnormality of cardiovascular system morphology

Related Diseases for Lower Limb Malformation-Hypospadias Syndrome

Symptoms & Phenotypes for Lower Limb Malformation-Hypospadias Syndrome

Human phenotypes related to Lower Limb Malformation-Hypospadias Syndrome:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047
2 abnormality of cardiovascular system morphology 31 hallmark (90%) HP:0030680
3 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
4 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
5 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
6 sacral dimple 58 31 frequent (33%) Frequent (79-30%) HP:0000960
7 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
8 abnormality of tibia morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002992
9 abnormality of the spleen 58 31 frequent (33%) Frequent (79-30%) HP:0001743
10 lower limb asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0100559
11 abnormality of the ureter 58 31 frequent (33%) Frequent (79-30%) HP:0000069
12 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
13 malformation of the heart and great vessels 58 Very frequent (99-80%)

Drugs & Therapeutics for Lower Limb Malformation-Hypospadias Syndrome

Search Clinical Trials , NIH Clinical Center for Lower Limb Malformation-Hypospadias Syndrome

Genetic Tests for Lower Limb Malformation-Hypospadias Syndrome

Anatomical Context for Lower Limb Malformation-Hypospadias Syndrome

MalaCards organs/tissues related to Lower Limb Malformation-Hypospadias Syndrome:

40
Spleen, Heart

Publications for Lower Limb Malformation-Hypospadias Syndrome

Variations for Lower Limb Malformation-Hypospadias Syndrome

Expression for Lower Limb Malformation-Hypospadias Syndrome

Search GEO for disease gene expression data for Lower Limb Malformation-Hypospadias Syndrome.

Pathways for Lower Limb Malformation-Hypospadias Syndrome

GO Terms for Lower Limb Malformation-Hypospadias Syndrome

Sources for Lower Limb Malformation-Hypospadias Syndrome

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
Content
Loading form....