MCID: OST144
MIFTS: 12

Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome

MalaCards integrated aliases for Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome:

Name: Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome 60
Heide Syndrome 60

Characteristics:

Orphanet epidemiological data:

60

Classifications:



Summaries for Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome

MalaCards based summary : Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome, is also known as heide syndrome. Affiliated tissues include bone, and related phenotypes are frontal bossing and intellectual disability

Related Diseases for Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome

Symptoms & Phenotypes for Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome

Human phenotypes related to Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 60 33 hallmark (90%) Very frequent (99-80%) HP:0002007
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
4 optic atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000648
5 blindness 60 33 hallmark (90%) Very frequent (99-80%) HP:0000618
6 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939
7 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
8 wormian bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0002645
9 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
10 short distal phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009882

Drugs & Therapeutics for Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome

Search Clinical Trials , NIH Clinical Center for Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome

Genetic Tests for Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome

Anatomical Context for Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome

MalaCards organs/tissues related to Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome:

42
Bone

Publications for Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome

Variations for Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome

Expression for Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome

Search GEO for disease gene expression data for Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome.

Pathways for Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome

GO Terms for Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome

Sources for Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity 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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