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 60
Fried-Goldberg-Mundel Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
lower limb malformation-hypospadias syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

Classifications:



External Ids:

UMLS via Orphanet 75 C2930962
Orphanet 60 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:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypospadias 60 33 hallmark (90%) Very frequent (99-80%) HP:0000047
2 abnormality of cardiovascular system morphology 33 hallmark (90%) HP:0030680
3 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
4 respiratory insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093
5 macrotia 60 33 frequent (33%) Frequent (79-30%) HP:0000400
6 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
7 abnormality of the spleen 60 33 frequent (33%) Frequent (79-30%) HP:0001743
8 sacral dimple 60 33 frequent (33%) Frequent (79-30%) HP:0000960
9 lower limb asymmetry 60 33 frequent (33%) Frequent (79-30%) HP:0100559
10 abnormality of the ureter 60 33 frequent (33%) Frequent (79-30%) HP:0000069
11 premature birth 60 33 frequent (33%) Frequent (79-30%) HP:0001622
12 abnormality of tibia morphology 60 33 frequent (33%) Frequent (79-30%) HP:0002992
13 malformation of the heart and great vessels 60 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:

42
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
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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