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:

IMPROVED

Name: Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa ⁵⁷ ¹⁹ ⁷⁵

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

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 scoliosis and short neck

Wikipedia: ⁷⁵ Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa is a very rare genetic disorder which is... more...

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:

³⁰ (show all 16)

#	Description	HPO Source Accession
1	scoliosis ³⁰	HP:0002650
2	short neck ³⁰	HP:0000470
3	visual impairment ³⁰	HP:0000505
4	photophobia ³⁰	HP:0000613
5	broad ribs ³⁰	HP:0000885
6	strabismus ³⁰	HP:0000486
7	reduced visual acuity ³⁰	HP:0007663
8	rod-cone dystrophy ³⁰	HP:0000510
9	short clavicles ³⁰	HP:0000894
10	biconcave vertebral bodies ³⁰	HP:0004586
11	rhizomelia ³⁰	HP:0008905
12	amelogenesis imperfecta ³⁰	HP:0000705
13	short humerus ³⁰	HP:0005792
14	short ribs ³⁰	HP:0000773
15	short femoral neck ³⁰	HP:0100864
16	prominent deltoid tuberosities ³⁰	HP:0003890

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 24-Oct-2022)

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 femoral necks
short humeri
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 (Updated 24-Oct-2022)

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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

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

MalaCards : 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. ⁵⁷	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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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 24-Oct-2022)

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⁷⁵ Wikipedia

MCID: RHZ006 MIFTS: 14	Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa Categories: Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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:

Inheritance:

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

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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