Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

MalaCards integrated aliases for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa:

Name: Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa ⁵⁶ ⁵²

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

HPO:

³¹

rhizomelic dysplasia, scoliosis, and retinitis pigmentosa:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

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Summaries for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

MalaCards based summary : Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa Affiliated tissues include bone, and related phenotypes are short neck and scoliosis

More information from OMIM: 610319

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Related Diseases for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

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Symptoms & Phenotypes for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Human phenotypes related to Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa:

³¹ (show all 16)

#	Description	HPO Source Accession
1	short neck ³¹	HP:0000470
2	scoliosis ³¹	HP:0002650
3	visual impairment ³¹	HP:0000505
4	photophobia ³¹	HP:0000613
5	broad ribs ³¹	HP:0000885
6	strabismus ³¹	HP:0000486
7	reduced visual acuity ³¹	HP:0007663
8	rod-cone dystrophy ³¹	HP:0000510
9	short clavicles ³¹	HP:0000894
10	rhizomelia ³¹	HP:0008905
11	biconcave vertebral bodies ³¹	HP:0004586
12	amelogenesis imperfecta ³¹	HP:0000705
13	short humerus ³¹	HP:0005792
14	short ribs ³¹	HP:0000773
15	short femoral neck ³¹	HP:0100864
16	prominent deltoid tuberosities ³¹	HP:0003890

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Neck:
short neck

Chest Ribs Sternum Clavicles And Scapulae:
short clavicles
short ribs
wide clavicles
wide ribs

Skeletal Limbs:
prominent deltoid tuberosities
short humeri
short femoral necks
rhizomelic shortening of the long bones, particularly the upper limbs
short distal ulnae
more

Skeletal:
normal bone age

Skeletal Pelvis:
irregular sacro-iliac joints

Head And Neck Eyes:
photophobia
strabismus
decreased visual acuity
retinitis pigmentosa

Skeletal Spine:
biconcave vertebral bodies
scoliosis, severe
narrowed lumbar canal

Growth Height:
short stature, postnatal

Head And Neck Teeth:
amelogenesis imperfecta (in 1 patient)

Clinical features from OMIM:

610319

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Drugs & Therapeutics for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Search Clinical Trials , NIH Clinical Center for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

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Genetic Tests for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

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Anatomical Context for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

MalaCards organs/tissues related to Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa:

⁴⁰

Bone

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Publications for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Articles related to Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa:

#	Title	Authors	PMID	Year
1	A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement. ⁵⁶	Megarbane A...Dagher F	16770799	2006

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Genes for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

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Variations for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

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Expression for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Search GEO for disease gene expression data for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa.

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Pathways for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

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GO Terms for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

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Sources for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Aliases & Classifications for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

MalaCards integrated aliases for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Related Diseases for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Symptoms & Phenotypes for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Human phenotypes related to Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Genetic Tests for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Anatomical Context for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

MalaCards organs/tissues related to Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa:

Publications for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Articles related to Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa:

Genes for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Variations for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Expression for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

Pathways for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

GO Terms for Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa

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