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Ontology Browser
Term:
rhizomelic chondrodysplasia punctata type 1 (EFO:MONDO:0008972)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
aceruloplasminemia 
Alpers syndrome 
apparent mineralocorticoid excess 
Ataxia - oculomotor apraxia type 1 
Ataxia with vitamin E deficiency 
Ataxia-telangiectasia 
Atypical progressive supranuclear palsy +  
autosomal dominant optic atrophy +  
autosomal recessive optic atrophy 
Barth syndrome 
cerebrotendinous xanthomatosis 
CHILD syndrome 
CHIME syndrome 
choroidal sclerosis +  
Chédiak-Higashi syndrome 
Classical progressive supranuclear palsy 
CLN1 disease 
CLN11 disease 
CLN13 disease 
CLN2 disease 
CLN3 disease 
CLN4A disease 
CLN4B disease 
CLN5 disease 
CLN6 disease 
CLN7 disease 
CLN8 disease 
CLN9 disease 
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 
Congenital neuronal ceroid lipofuscinosis +  
corneal-cerebellar syndrome 
eyelid degenerative disorder +  
familial apolipoprotein C-II deficiency 
familial lipoprotein lipase deficiency 
fatty acid hydroxylase-associated neurodegeneration 
FLVCR1-related retinopathy with or without ataxia +  
GM1 gangliosidosis type 1 
hereditary spastic paraplegia 39 
hyperphosphatasia-intellectual disability syndrome 
infantile cerebellar-retinal degeneration 
intellectual disability, autosomal recessive 53 
Krabbe disease +  
Krabbe disease due to saposin A deficiency 
Leber hereditary optic neuropathy 
lipoprotein glomerulopathy 
lysosomal acid lipase deficiency +  
mevalonate kinase deficiency +  
Microphthalmia - brain atrophy 
microphthalmia-brain atrophy syndrome 
Mohr-Tranebjaerg syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome 2 
multiple mitochondrial dysfunctions syndrome 4 
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 
neuromyelitis optica +   
neuronal ceroid lipofuscinosis 8 northern epilepsy variant 
neuronal ceroid-lipofuscinosis, dominant/recessive 
osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 
peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain +  
PHARC syndrome 
Progressive epilepsy - intellectual disability, Finnish type 
Refsum disease 
rhizomelic chondrodysplasia punctata type 1 
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. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.
rhizomelic chondrodysplasia punctata type 2 
rhizomelic chondrodysplasia punctata type 3 
Sandhoff disease +  
sea-blue histiocyte syndrome 
sitosterolemia 
Sjogren-Larsson syndrome 
Smith-Lemli-Opitz syndrome 
Spastic paraplegia type 2 
spinocerebellar ataxia 27A 
Spinocerebellar ataxia with axonal neuropathy type 2 
Tay-Sachs disease +  
tremor-ataxia-central hypomyelination syndrome 
vitreous syneresis +  
X-linked Charcot-Marie-Tooth disease type 5 
Xeroderma pigmentosum complementation group B 
Xeroderma pigmentosum complementation group D 
Xeroderma pigmentosum complementation group F 
Xeroderma pigmentosum complementation group G 

Synonyms
Exact Synonyms: PEX7 rhizomelic chondrodysplasia punctata ;   Pbd9 ;   peroxisome biogenesis disorder 9 ;   rhizomelic chondrodysplasia punctata caused by mutation in PEX7
Related Synonyms: RCDP1 ;   chondrodysplasia punctata, rhizomelic form ;   chondrodystrophia calcificans punctata
Alternate IDs: MONDO:0008972
Xrefs: DOID:0110851 ;   GARD:6049 ;   MEDGEN:347072 ;   MIM:215100 ;   NANDO:1200763 ;   ORDO:309789 ;   UMLS:C1859133
see_also: https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1" xsd:anyURI {source="GARD:0006049
Definition Sources: https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1

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