RCP
MCID: RHZ001
MIFTS: 56

Rhizomelic Chondrodysplasia Punctata (RCP) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases categories
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Summaries for Rhizomelic Chondrodysplasia Punctata

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Disease Ontology:8 A genetic disease that is characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congential cataracts and has material basis in mutations of the alkyldihydroxyacetonephosphate synthase (alkyl-dhap synthase) gene.

MalaCards based summary: Rhizomelic Chondrodysplasia Punctata, also known as chondrodysplasia punctata, rhizomelic, is related to peroxisome disorders and rhizomelic chondrodysplasia punctata type 1. An important gene associated with Rhizomelic Chondrodysplasia Punctata is PEX7 (peroxisomal biogenesis factor 7), and among its related pathways are Mitochondrial LC-Fatty Acid Beta-Oxidation and stearate biosynthesis I (animals). The compounds 3-oxoacyl-coa and 3-Oxotetradecanoyl-CoA have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and spinal cord, and related mouse phenotypes are liver/biliary system and behavior/neurological.

Genetics Home Reference:21 Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems.

Wikipedia:65 Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic... more...

Descriptions from OMIM:46 215100,222765,600121

Aliases & Classifications for Rhizomelic Chondrodysplasia Punctata

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Rhizomelic Chondrodysplasia Punctata, Aliases & Descriptions:

Name: Rhizomelic Chondrodysplasia Punctata 8 21 10
Chondrodysplasia Punctata, Rhizomelic 21 62
Chondrodysplasia Punctata Rhizomelic 44
 
Rcdp 21
Rcp 21


Classifications:



External Ids:

Disease Ontology8 DOID:2580
SNOMED-CT57 56692003
MeSH34 D018902
NCIt39 C85047

Related Diseases for Rhizomelic Chondrodysplasia Punctata

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Diseases in the Rhizomelic Chondrodysplasia Punctata Type 1 family:

rhizomelic chondrodysplasia punctata Rhizomelic Chondrodysplasia Punctata Type 2
Rhizomelic Chondrodysplasia Punctata, Type 3 Rhizomelic Chondrodysplasia Punctata Spectrum

Diseases related to Rhizomelic Chondrodysplasia Punctata via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1peroxisome disorders31.7PEX7
2rhizomelic chondrodysplasia punctata type 131.5HADHB, PEX7, HSD17B4, SCP2, ACOX1
3refsum disease30.1PHYH, CAT, GNPAT, PIPOX, PEX7, HACL1
4adrenoleukodystrophy28.5PEX13, PEX3, PEX5, HADHB, SLC25A17, CAT
5zellweger syndrome28.0AGPS, SLC25A17, PHYH, CAT, ACOX1, ACAA1
6chondrodysplasia11.3
7rhizomelic chondrodysplasia punctata type 210.9
8rhizomelic chondrodysplasia punctata, type 310.8
9cervicitis10.5
10rhizomelic chondrodysplasia punctata spectrum10.5
11peroxisome biogenesis disorder 2b10.4PEX5
12cataract10.4
13hepatitis10.4
14neuronitis10.4
15neonatal respiratory failure10.4
16peroxisomal disease10.4
17respiratory failure10.4
18peroxisome biogenesis disorder 9b10.4
19peroxisome biogenesis disorder 1a10.4
20peroxisomal acyl-coa oxidase deficiency10.4ACOX1
21chondrodysplasia punctata syndrome10.2GNPAT, ACAA1
22mulibrey nanism10.2PEX7, PEX5
23pityriasis versicolor10.1CAT
24d-bifunctional protein deficiency10.1ACOX1, SCP2, HSD17B4, HADHB
25bladder carcinoma10.1
26breast cancer10.1
27zellweger spectrum9.7PEX12, PEX26, PEX13, PEX3, PEX5
28refsum disease, infantile form9.1PEX3, PEX13, PEX26, PEX12, SLC25A17, PHYH

Graphical network of the top 20 diseases related to Rhizomelic Chondrodysplasia Punctata:



Diseases related to rhizomelic chondrodysplasia punctata

Symptoms for Rhizomelic Chondrodysplasia Punctata

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Clinical features from OMIM:

215100,222765,600121

Drugs & Therapeutics for Rhizomelic Chondrodysplasia Punctata

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Drug clinical trials:

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Search NIH Clinical Center for Rhizomelic Chondrodysplasia Punctata

Genetic Tests for Rhizomelic Chondrodysplasia Punctata

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Anatomical Context for Rhizomelic Chondrodysplasia Punctata

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MalaCards organs/tissues related to Rhizomelic Chondrodysplasia Punctata:

32
Bone, Brain, Spinal cord, Colon, Skin

Animal Models for Rhizomelic Chondrodysplasia Punctata or affiliated genes

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MGI Mouse Phenotypes related to Rhizomelic Chondrodysplasia Punctata:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5PHYH, HADHB, PEX5, PEX13, PEX7, HSD17B4
2MP:00053868.5PEX3, PEX13, PEX7, HSD17B4, SCP2, PHYH
3MP:00053898.4PEX5, PEX3, PEX7, GNPAT, HSD17B4, ACOX1
4MP:00053798.3PEX5, PEX3, PEX13, PEX7, GNPAT, HSD17B4
5MP:00053787.9HADHB, PEX5, PEX13, PEX7, GNPAT, HSD17B4
6MP:00053767.6HADHB, PEX5, PEX3, PEX7, GNPAT, HSD17B4

Publications for Rhizomelic Chondrodysplasia Punctata

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Articles related to Rhizomelic Chondrodysplasia Punctata:

(show top 50)    (show all 75)
idTitleAuthorsYear
1
Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation. (24849933)
2014
2
An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn. (24049758)
2013
3
Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. (23942406)
2013
4
Rhizomelic chondrodysplasia punctata and cardiac pathology. (23572185)
2013
5
The neurology of rhizomelic chondrodysplasia punctata. (24172221)
2013
6
C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I. (23462609)
2013
7
Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. (23716944)
2012
8
Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder. (23431749)
2012
9
Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. (22052861)
2011
10
Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis. (22692643)
2011
11
Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings. (20014169)
2010
12
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India. (20145307)
2010
13
Neuroimaging features in a neonate with rhizomelic chondrodysplasia punctata. (17950430)
2007
14
Prenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata by detection of rhizomelic shortening and bilateral cataracts. (15824492)
2005
15
Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case. (16225820)
2005
16
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. (12915479)
2003
17
Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings. (12620550)
2003
18
MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. (11901023)
2002
19
Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. (11170096)
2001
20
Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). (10972423)
2000
21
Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells. (10442551)
1999
22
Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency. (10327148)
1999
23
Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview. (10227689)
1999
24
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. (9536089)
1998
25
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata. (9686383)
1998
26
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. (9090382)
1997
27
Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function. (9039662)
1997
28
Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata. (9266377)
1997
29
Variant rhizomelic chondrodysplasia punctata (RCDP) with normal plasma phytanic acid: clinico-biochemical delineation of a subtype and complementation studies. (8882397)
1996
30
Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings. (8956940)
1996
31
Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida. (7991519)
1994
32
Rhizomelic chondrodysplasia punctata: early recognition with antenatal ultrasonography. (8006188)
1994
33
Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata. (8353949)
1993
34
Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency. (8466247)
1993
35
Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata. (8373640)
1993
36
Peroxisomal 3-ketoacyl-CoA thiolase is partially processed in fibroblasts from patients with rhizomelic chondrodysplasia punctata. (8295403)
1993
37
Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata. (1468458)
1992
38
Studies of vertebral coronal cleft in rhizomelic chondrodysplasia punctata. (1409157)
1992
39
Rhizomelic chondrodysplasia punctata--a new clinical variant. (1293391)
1992
40
Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data. (1750197)
1991
41
Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts. (1677591)
1991
42
Rhizomelic chondrodysplasia punctata: biochemical studies of peroxisomes isolated from cultured skin fibroblasts. (1680308)
1991
43
Cranial MR imaging in rhizomelic chondrodysplasia punctata. (1902045)
1991
44
Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports. (2208770)
1990
45
Antenatal diagnosis of rhizomelic chondrodysplasia punctata in the second trimester. (2122105)
1990
46
Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata. (2181395)
1990
47
Prenatal diagnosis of rhizomelic chondrodysplasia punctata. (3205862)
1988
48
Rhizomelic chondrodysplasia punctata: clinical, pathologic, and biochemical findings in two patients. (3171792)
1988
49
More on Zellweger's syndrome, infantile Refsum's disease, and rhizomelic chondrodysplasia punctata. (2427949)
1986
50
Rhizomelic chondrodysplasia punctata: another peroxisomal disorder. (4010717)
1985

Variations for Rhizomelic Chondrodysplasia Punctata

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Expression for genes affiliated with Rhizomelic Chondrodysplasia Punctata

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Expression patterns in normal tissues for genes affiliated with Rhizomelic Chondrodysplasia Punctata

Search GEO for disease gene expression data for Rhizomelic Chondrodysplasia Punctata.

Pathways for genes affiliated with Rhizomelic Chondrodysplasia Punctata

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Pathways related to Rhizomelic Chondrodysplasia Punctata according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)37
Fatty Acid Beta Oxidation37
10.0SCP2, HADHB
2
Show member pathways
fatty acid beta-oxidation I37
eicosapentaenoate biosynthesis II (metazoa)37
gamma-linolenate biosynthesis II (animals)37
fatty acid activation37
10.0SCP2, HADHB
3
Show member pathways
10.0SCP2, HSD17B4
4
Show member pathways
fatty acid alpha-oxidation II37
phytol degradation37
9.7PHYH, HACL1
5
Show member pathways
mitochondrial L-carnitine shuttle pathway37
Saturated fatty acid biosynthesis60
9.5HADHB, ACAA1, ACOX1
6
Show member pathways
oleate biosynthesis II (animals)37
9.5HADHB, ACAA1, ACOX1
7
Show member pathways
Cholesterol biosynthesis37
lanosterol biosynthesis37
zymosterol biosynthesis37
mevalonate pathway I37
epoxysqualene biosynthesis37
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)37
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)37
trans, trans-farnesyl diphosphate biosynthesis37
cholesterol biosynthesis I37
cholesterol biosynthesis III (via desmosterol)37
geranylgeranyldiphosphate biosynthesis37
9.3MVK, PMVK, HADHB
8
Show member pathways
9.3HSD17B4, SCP2, ACAA1, ACOX1
9
Show member pathways
fatty acid beta-oxidation VI (peroxisome)37
9.3ACOX1, ACAA1, SCP2, HSD17B4
10
Show member pathways
7.3AGPS, SLC25A17, PHYH, ACOX1, ACAA1, SCP2
11
Show member pathways
5.2HSD17B4, GNPAT, PMVK, PIPOX, HACL1, HADHB
123.7AGPS, PEX3, PEX5, HACL1, PEX13, PEX26

Compounds for genes affiliated with Rhizomelic Chondrodysplasia Punctata

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Sources:
44Novoseek, 24HMDB
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Compounds related to Rhizomelic Chondrodysplasia Punctata according to GeneCards/GeneDecks:

(show top 50)    (show all 84)
idCompoundScoreTop Affiliating Genes
13-oxoacyl-coa4410.0ACAA1, SCP2, GNPAT
23-Oxotetradecanoyl-CoA2410.0HADHB, HSD17B4, ACAA1
33-Oxododecanoyl-CoA2410.0HADHB, HSD17B4, ACAA1
42-Methylacetoacetyl-CoA2410.0HADHB, HSD17B4, ACAA1
5Tetradecanoyl-CoA249.9ACOX1, ACAA1, HADHB
63-Oxodecanoyl-CoA249.9HADHB, HSD17B4, ACAA1
73-Oxooctanoyl-CoA249.9HADHB, HSD17B4, ACAA1
83-Oxohexanoyl-CoA249.9HADHB, HSD17B4, ACAA1
93-Oxohexadecanoyl-CoA249.9HADHB, HSD17B4, ACAA1
10Tridecanoyl-CoA249.9HSD17B4, ACAA1, ACOX1
11Acetoacetyl-CoA249.9HADHB, HSD17B4, ACAA1
12Docosa-4,7,10,13,16-pentaenoyl CoA249.8ACAA1, HADHB
13Pentanoyl-CoA249.7ACOX1, ACAA1, GNPAT, HADHB
14Nonanoyl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
15Lauroyl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
16Isovaleryl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
17Undecanoyl-CoA249.7GNPAT, ACAA1, ACOX1, HADHB
18trans-Octadec-2-enoyl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
19Tetracosanoyl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
20Isobutyryl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
21Butyryl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
222-Methylhexanoyl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
232-methylbutyryl-coa44 2410.7HADHB, GNPAT, ACAA1, ACOX1
24Decanoyl-CoA (n-C10:0CoA)249.7ACOX1, ACAA1, GNPAT, HADHB
25Hexanoyl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
26Glutaconyl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
273Z-dodecenoyl-CoA249.7HADHB, GNPAT, ACAA1, ACOX1
28Eicosanoyl-CoA249.6ACOX1, ACAA1, GNPAT, HADHB
292-hydroxyphytanoyl-coa44 2410.6PHYH, HACL1
30octanoyl-coa44 2410.6HADHB, GNPAT, ACAA1, ACOX1
31Crotonoyl-CoA249.6GNPAT, ACAA1, ACOX1, HADHB
32Acrylyl-CoA249.6HADHB, GNPAT, ACAA1, ACOX1
33Pristanoyl-CoA249.6ACOX1, ACAA1, GNPAT, HADHB
34trans-2-Hexenoyl-CoA249.6ACOX1, ACAA1, GNPAT, HADHB
35(2E)-Tetradecenoyl-CoA249.6HADHB, GNPAT, ACAA1, ACOX1
36(2E)-Decenoyl-CoA249.6ACOX1, ACAA1, GNPAT, HADHB
37(2E)-Dodecenoyl-CoA249.5ACOX1, ACAA1, GNPAT, HADHB
38(2E)-Octenoyl-CoA249.5ACOX1, HADHB, GNPAT, ACAA1
39Heptanoyl-CoA249.5HADHB, GNPAT, HSD17B4, ACAA1, ACOX1
40acetyl-coa44 2410.5HADHB, GNPAT, SCP2, ACAA1, ACOX1
413a,7a-Dihydroxy-5b-24-oxocholestanoyl-CoA249.5ACAA1, HADHB
42(2E)-Hexadecenoyl-CoA249.5HADHB, GNPAT, ACAA1, ACOX1
43stearoyl-coa44 2410.4HADHB, GNPAT, ACAA1, ACOX1
44Propionyl-CoA249.4HADHB, GNPAT, ACAA1, ACOX1
45Palmityl-CoA249.3HADHB, GNPAT, ACAA1, ACOX1
46fatty acid449.1HADHB, PEX7, GNPAT, HSD17B4, SCP2, ACOX1
47sterol449.0HADHB, PMVK, HSD17B4, SCP2, MVK, ACOX1
48phytanic acid448.9PHYH, CAT, ACAA1, SCP2, GNPAT, HACL1
49lipid448.7HADHB, PEX5, GNPAT, SCP2, MVK, ACOX1
50acyl-coa448.6HADHB, PEX5, GNPAT, HSD17B4, SCP2, ACOX1

GO Terms for genes affiliated with Rhizomelic Chondrodysplasia Punctata

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Cellular components related to Rhizomelic Chondrodysplasia Punctata according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of peroxisomal membraneGO:0057798.3PEX3, PEX13, PEX26, PEX12, SLC25A17
2mitochondrionGO:0057397.7PEX5, GNPAT, HSD17B4, SCP2, ACOX1, PHYH
3intracellular membrane-bounded organelleGO:0432317.4PEX3, HSD17B4, SCP2, ACAA1, CAT, SLC25A17
4peroxisomal matrixGO:0057827.3PEX5, PEX7, GNPAT, HSD17B4, SCP2, ACAA1
5peroxisomal membraneGO:0057787.1PEX5, AGPS, PEX3, PEX13, PEX12, GNPAT
6peroxisomeGO:0057773.7SCP2, MVK, ACAA1, ACOX1, CAT, PHYH

Biological processes related to Rhizomelic Chondrodysplasia Punctata according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1ether lipid biosynthetic processGO:00861110.1AGPS, GNPAT, PEX7
2protein import into peroxisome matrix, dockingGO:01656010.0PEX13, PEX5
3protein targeting to peroxisomeGO:0066259.9PEX5, PEX12
4cerebral cortex cell migrationGO:0217959.9PEX13, PEX5
5bile acid biosynthetic processGO:0066999.9HSD17B4, SCP2
6protein import into peroxisome membraneGO:0450469.8PEX5, PEX3, PEX26
7isopentenyl diphosphate biosynthetic process, mevalonate pathwayGO:0192879.8MVK, PMVK
8protein import into peroxisome matrixGO:0165589.7PEX7, PEX12, PEX26, PEX5
9bile acid metabolic processGO:0082069.7HSD17B4, SCP2, ACAA1
10peroxisome organizationGO:0070319.6PEX3, PEX12, PEX7, SCP2
11neuron migrationGO:0017649.6PEX7, PEX13, PEX5
12unsaturated fatty acid metabolic processGO:0335599.6ACAA1, SCP2, HSD17B4, ACOX1
13alpha-linolenic acid metabolic processGO:0361099.6ACOX1, ACAA1, SCP2, HSD17B4
14cholesterol biosynthetic processGO:0066959.6MVK, PMVK
15fatty acid beta-oxidation using acyl-CoA oxidaseGO:0335409.5HSD17B4, ACOX1, ACAA1, SCP2
16protein tetramerizationGO:0512629.4CAT, PEX5
17very long-chain fatty acid metabolic processGO:0000389.4PEX5, HSD17B4, ACAA1, ACOX1
18fatty acid alpha-oxidationGO:0015618.9HACL1, PEX13, PHYH, SLC25A17
19fatty acid beta-oxidationGO:0066358.5HADHB, PEX5, PEX7, HSD17B4, ACAA1, SLC25A17
20cellular lipid metabolic processGO:0442557.4AGPS, HADHB, HACL1, GNPAT, HSD17B4, SCP2
21small molecule metabolic processGO:0442816.1HSD17B4, GNPAT, PMVK, HACL1, HADHB, SCP2

Molecular functions related to Rhizomelic Chondrodysplasia Punctata according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1long-chain-enoyl-CoA hydratase activityGO:01650810.2HADHB, HSD17B4
2FAD bindingGO:07194910.1AGPS, ACOX1
33-hydroxyacyl-CoA dehydrogenase activityGO:00385710.1HSD17B4, HADHB
4palmitoyl-CoA oxidase activityGO:0164019.9ACAA1, ACOX1
5acetyl-CoA C-acyltransferase activityGO:0039889.9HADHB, ACAA1
6fatty-acyl-CoA bindingGO:0000629.9SCP2, HADHB
7cofactor bindingGO:0480379.7HACL1, PHYH
8protein C-terminus bindingGO:0080229.4PEX5, PEX26, PEX12
9receptor bindingGO:0051028.3CAT, HACL1, PIPOX, GNPAT, HSD17B4, SCP2
10protein bindingGO:0055157.0PEX5, PEX3, PEX13, PEX26, PEX12, SCP2

Products for genes affiliated with Rhizomelic Chondrodysplasia Punctata

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Sources for Rhizomelic Chondrodysplasia Punctata

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
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