MCID: THN011
MIFTS: 11

Thin Ribs-Tubular Bones-Dysmorphism Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Thin Ribs-Tubular Bones-Dysmorphism Syndrome

MalaCards integrated aliases for Thin Ribs-Tubular Bones-Dysmorphism Syndrome:

Name: Thin Ribs-Tubular Bones-Dysmorphism Syndrome 60
Sharma-Kapoor-Ramji Syndrome 60
Sharma Kapoor Ramji Syndrome 74

Classifications:



External Ids:

ICD10 via Orphanet 35 Q87.5
UMLS via Orphanet 75 C2931543
Orphanet 60 ORPHA1506
SNOMED-CT via HPO 70 199612005 22033007 90145001
UMLS 74 C2931543

Summaries for Thin Ribs-Tubular Bones-Dysmorphism Syndrome

MalaCards based summary : Thin Ribs-Tubular Bones-Dysmorphism Syndrome, is also known as sharma-kapoor-ramji syndrome. Related phenotypes are macrocephaly and frontal bossing

Related Diseases for Thin Ribs-Tubular Bones-Dysmorphism Syndrome

Symptoms & Phenotypes for Thin Ribs-Tubular Bones-Dysmorphism Syndrome

Human phenotypes related to Thin Ribs-Tubular Bones-Dysmorphism Syndrome:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
3 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
4 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
5 abnormality of the ribs 60 33 hallmark (90%) Very frequent (99-80%) HP:0000772
6 abnormality of pelvic girdle bone morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0002644
7 abnormal palate morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0000174
8 slender long bone 60 33 hallmark (90%) Very frequent (99-80%) HP:0003100

Drugs & Therapeutics for Thin Ribs-Tubular Bones-Dysmorphism Syndrome

Search Clinical Trials , NIH Clinical Center for Thin Ribs-Tubular Bones-Dysmorphism Syndrome

Genetic Tests for Thin Ribs-Tubular Bones-Dysmorphism Syndrome

Anatomical Context for Thin Ribs-Tubular Bones-Dysmorphism Syndrome

Publications for Thin Ribs-Tubular Bones-Dysmorphism Syndrome

Variations for Thin Ribs-Tubular Bones-Dysmorphism Syndrome

Expression for Thin Ribs-Tubular Bones-Dysmorphism Syndrome

Search GEO for disease gene expression data for Thin Ribs-Tubular Bones-Dysmorphism Syndrome.

Pathways for Thin Ribs-Tubular Bones-Dysmorphism Syndrome

GO Terms for Thin Ribs-Tubular Bones-Dysmorphism Syndrome

Sources for Thin Ribs-Tubular Bones-Dysmorphism 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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