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Chondrodysplasia Punctata
Chondrodysplasia punctata
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Genodermatoses
Chondrodysplasia punctata, rhizomelic
X-linked recessive chondrodysplasia punctata
Conradi Hunermann syndrome
Refsum disease
Pfeiffer syndrome
Ichthyosis
Diseases and disorders
(36)
Fibrochondrogenesis
Raine syndrome
Boomerang dysplasia
Schmid metaphyseal chondrodysplasia
Achondrogenesis type 2
Achondrogenesis type 2
Short rib-polydactyly syndrome
Osteochondropathy
Chondromatous
Chondrodystrophia
Spondyloepiphyseal dysplasia congenita
Osteochond- rodysplasia
Metaphyseal dysplasia
Osteopoikilosis
Hypochondrogenesis
Ollier disease
Camurati engelmann disease
Thanatophoric dysplasia
Chondrodystrophy
Multiple epiphyseal dysplasia
Hereditary multiple exostoses
Hypochondroplasia
Maffucci syndrome
Spondyloep- imetaphyseal dysplasia
Peroxisomal disorders
Enchondromatosis
Acatalasia
Skeletal dysplasias
Diastrophic dysplasia
Zellweger syndrome
Dwarfism
Alport syndrome
Ehlers Danlos Syndrome
Cataracts
Chondrodysplasia punctata, rhizomelic
Refsum disease
Ichthyosis
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Autosomal recessive disorders
(8)
Atelosteogenesis, type II
Antley-bixler syndrome
Otospondyl- omegaepiphyseal dysplasia
Fibrochondrogenesis
Raine syndrome
Raine syndrome
Chondrodystrophy
Acatalasia
Diastrophic dysplasia
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Congenital disorders
Achondrogenesis type 1B
Achondrogenesis
Buschke-Ollendorff syndrome
Congenital
Fibrochondrogenesis
Achondrogenesis type 2
Ehlers Danlos Syndrome
Rare diseases
(9)
Fibrochondrogenesis
Atelosteogenesis, type II
Raine syndrome
Boomerang dysplasia
Antley-bixler syndrome
Antley-bixler syndrome
Thanatophoric dysplasia
Multiple epiphyseal dysplasia
Hereditary multiple exostoses
Zellweger syndrome
more...
Syndromes
(10)
Laminopathy
Deformities
Raine syndrome
Conradi Hunermann syndrome
Antley-bixler syndrome
Antley-bixler syndrome
Buschke-Ollendorff syndrome
Maffucci syndrome
Pfeiffer syndrome
Alport syndrome
Ehlers Danlos Syndrome
more...
Tissues
Keratinopathy
Cartilage
Ossification
Skeletal system
Osseous
Skeletal disorders
Long bones
Hypochondroplasia
Cartilage
Ossification
Genetic disorders
(26)
X-linked dominant
Inherited disorder
Adrenoleuk- odystrophy
Fibrochondrogenesis
Atelosteogenesis, type II
Atelosteogenesis, type II
Raine syndrome
Boomerang dysplasia
Chondrodystrophia
Spondyloepiphyseal dysplasia congenita
Antley-bixler syndrome
Otospondyl- omegaepiphyseal dysplasia
Hypochondrogenesis
Thanatophoric dysplasia
Chondrodystrophy
Multiple epiphyseal dysplasia
Hereditary multiple exostoses
Buschke-Ollendorff syndrome
Hypochondroplasia
Laminopathy
Spondyloep- imetaphyseal dysplasia
Acatalasia
Diastrophic dysplasia
Zellweger syndrome
Pfeiffer syndrome
Alport syndrome
Ehlers Danlos Syndrome
more...
See also
(17)
PEX7
SLC26A2
Arylsulfatase E
Autosomal recessive
Epiphyses
Epiphyses
Scleroprotein
Dysplasia
Epiphyseal
Short stature
Calcification
MAGIC Foundation
Skeletal abnormalities
OMIM
Cutaneous
Stippling
Am. J. Med. Genet.
2510
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