MCID: THN011
MIFTS: 10

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 59
Sharma-Kapoor-Ramji Syndrome 59
Sharma Kapoor Ramji Syndrome 72

Classifications:



External Ids:

ICD10 via Orphanet 34 Q87.5
UMLS via Orphanet 73 C2931543
Orphanet 59 ORPHA1506
UMLS 72 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. Affiliated tissues include bone, and 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:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
3 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
4 slender long bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0003100
5 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
6 abnormality of the ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000772
7 abnormality of pelvic girdle bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002644
8 abnormal palate morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0000174

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

MalaCards organs/tissues related to Thin Ribs-Tubular Bones-Dysmorphism Syndrome:

41
Bone

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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