RHIZOMELIC CHONDRODYSPLASIA PUNCTATA
\ɹa͡ɪzˈə͡ʊmlɪk kˌɒndɹədɪsplˈe͡ɪzi͡ə pʌŋktˈɑːtə], \ɹaɪzˈəʊmlɪk kˌɒndɹədɪsplˈeɪziə pʌŋktˈɑːtə], \ɹ_aɪ_z_ˈəʊ_m_l_ɪ_k k_ˌɒ_n_d_ɹ_ə_d_ɪ_s_p_l_ˈeɪ_z_iə p_ʌ_ŋ_k_t_ˈɑː_t_ə]\
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An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondrial bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)
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Proto Oncogene Proteins c erbB 2
- cell surface protein-tyrosine kinase that is found to be overexpressed in significant number adenocarcinomas. It has extensive homology can heterodimerize EGF EPIDERMAL GROWTH FACTOR), 3 receptor (RECEPTOR, 3) and the 4 receptor. Activation of erbB-2 receptor occurs during heterodimer formation with a ligand-bound erbB family members. EC 2.7.11.-.
Nearby Words
- rhizomatose
- rhizomatous
- rhizomatous begonia
- rhizome
- rhizomelic
- Rhizomelic Chondrodysplasia Punctata
- rhizomelic pseudopolyarthritides
- rhizomelic pseudopolyarthritis
- rhizomelic spondylosis
- rhizomorph
- rhizomorphous