Asymmetric Short Stature Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Asymmetric Short Stature Syndrome

MalaCards integrated aliases for Asymmetric Short Stature Syndrome:

Name: Asymmetric Short Stature Syndrome ⁵⁸ ⁷⁴

Characteristics:

OMIM:

⁵⁸

Inheritance:
? autosomal dominant

External Ids:

OMIM ⁵⁸ 108450

MedGen ⁴³ C1862458

SNOMED-CT via HPO ⁷⁰ 12351004 16596007 32958008 more

UMLS ⁷⁴ C1862458

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Summaries for Asymmetric Short Stature Syndrome

MalaCards based summary : Asymmetric Short Stature Syndrome Affiliated tissues include bone, and related phenotypes are frontal bossing and micrognathia

Description from OMIM: 108450

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Related Diseases for Asymmetric Short Stature Syndrome

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Symptoms & Phenotypes for Asymmetric Short Stature Syndrome

Human phenotypes related to Asymmetric Short Stature Syndrome:

³³ (show all 10)

#	Description	HPO Source Accession
1	frontal bossing ³³	HP:0002007
2	micrognathia ³³	HP:0000347
3	dental crowding ³³	HP:0000678
4	convex nasal ridge ³³	HP:0000444
5	fused cervical vertebrae ³³	HP:0002949
6	esotropia ³³	HP:0000565
7	hypermetropia ³³	HP:0000540
8	asymmetric short stature ³³	HP:0008929
9	lumbar scoliosis ³³	HP:0004626
10	hemihypotrophy of lower limb ³³	HP:0200053

Symptoms via clinical synopsis from OMIM:

⁵⁸

Teeth:
dental crowding

Neuro:
normal intelligence

Head:
mild frontal bossing
small almost beaked nose
mandibular hypoplasia

Spine:
pelvic tilt
lumbar scoliosis

Eyes:
esotropia
hyperopia

Growth:
asymmetric short stature

Limbs:
asymmetric leg shortening

Radiology:
fused atypical cervical vertebrae, carpal bones and ribs

Clinical features from OMIM:

108450

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Drugs & Therapeutics for Asymmetric Short Stature Syndrome

Search Clinical Trials , NIH Clinical Center for Asymmetric Short Stature Syndrome

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Genetic Tests for Asymmetric Short Stature Syndrome

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Anatomical Context for Asymmetric Short Stature Syndrome

MalaCards organs/tissues related to Asymmetric Short Stature Syndrome:

⁴²

Bone

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Publications for Asymmetric Short Stature Syndrome

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Genes for Asymmetric Short Stature Syndrome

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Variations for Asymmetric Short Stature Syndrome

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Expression for Asymmetric Short Stature Syndrome

Search GEO for disease gene expression data for Asymmetric Short Stature Syndrome.

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Pathways for Asymmetric Short Stature Syndrome

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GO Terms for Asymmetric Short Stature Syndrome

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Sources for Asymmetric Short Stature Syndrome

¹ BioSystems

² BitterDB

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⁴ Cell Signaling Technology

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²¹ GeneAnalytics

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

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³¹ HGMD

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³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

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³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

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⁴² MalaCards

⁴³ MedGen

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⁴⁹ NCBI Bookshelf

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⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

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⁵⁶ Novoseek

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⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

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⁶³ PubMed

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⁶⁶ R&D Systems

⁶⁷ Reactome

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⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia