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 ⁵⁷ ⁷³

Characteristics:

OMIM:

⁵⁷

Inheritance:
? autosomal dominant

External Ids:

OMIM ⁵⁷ 108450

MedGen ⁴² C1862458

SNOMED-CT via HPO ⁶⁹ 32958008 38101003 16596007 more

UMLS ⁷³ 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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Asymmetric Short Stature Syndrome:

³² (show all 10)

#	Description	HPO Source Accession
1	frontal bossing ³²	HP:0002007
2	micrognathia ³²	HP:0000347
3	dental crowding ³²	HP:0000678
4	convex nasal ridge ³²	HP:0000444
5	fused cervical vertebrae ³²	HP:0002949
6	esotropia ³²	HP:0000565
7	hypermetropia ³²	HP:0000540
8	asymmetric short stature ³²	HP:0008929
9	lumbar scoliosis ³²	HP:0004626
10	hemihypotrophy of lower limb ³²	HP:0200053

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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:

⁴¹

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

³ CDC

⁴ Cell Signaling Technology

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⁹ Cosmic

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²⁰ GeneAnalytics

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²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HGMD

³¹ HMDB

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³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

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⁴⁰ LOVD

⁴¹ MalaCards

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⁴⁸ NCBI Bookshelf

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⁵³ NIH Rare Diseases

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⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia