Biomaterial Database

Tricho-rhino-phalangeal syndrome type II. The Langer-Giedion syndrome. 1979

S Murachi, and H Itoh, and Y Sugiura

UI	MeSH Term	Description	Entries
D007039	Hypotrichosis	Presence of less than the normal amount of hair. (Dorland, 27th ed)	Hypotrichoses
D008297	Male		Males
D008607	Intellectual Disability	Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D009666	Nose	A part of the upper respiratory tract. It contains the organ of SMELL. The term includes the external nose, the nasal cavity, and the PARANASAL SINUSES.	External Nose,External Noses,Nose, External,Noses,Noses, External
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005097	Exostoses, Multiple Hereditary	Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.	Chondrodysplasia, Hereditary Deforming,Diaphyseal Aclasis,Exostoses, Familial,Exostoses, Hereditary Multiple,Exostoses, Multiple,Exostoses, Multiple Cartilaginous,Hereditary Multiple Exostoses,Osteochondromas, Multiple,Bessel-Hagen Disease,Exostoses, Multiple, Type I,Exostosis, Familial,Exostosis, Hereditary Multiple,Exostosis, Multiple,Exostosis, Multiple Cartilaginous,Familial Exostoses,Hereditary Multiple Exostosis,Multiple Cartilaginous Exostoses,Multiple Hereditary Exostoses,Multiple Osteochondromas,Multiple Osteochondromatosis,Aclases, Diaphyseal,Aclasis, Diaphyseal,Cartilaginous Exostoses, Multiple,Cartilaginous Exostosis, Multiple,Chondrodysplasias, Hereditary Deforming,Deforming Chondrodysplasia, Hereditary,Deforming Chondrodysplasias, Hereditary,Diaphyseal Aclases,Familial Exostosis,Hereditary Deforming Chondrodysplasia,Hereditary Deforming Chondrodysplasias,Hereditary Exostoses, Multiple,Multiple Cartilaginous Exostosis,Multiple Exostoses,Multiple Exostoses, Hereditary,Multiple Exostosis,Multiple Exostosis, Hereditary,Multiple Osteochondroma,Osteochondroma, Multiple
D006228	Hand Deformities, Congenital	Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.	Congenital Hand Deformities,Congenital Hand Deformity,Deformities, Congenital Hand,Deformity, Congenital Hand,Hand Deformity, Congenital
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015	Abnormalities, Multiple	Congenital abnormalities that affect more than one organ or body structure.	Multiple Abnormalities
D013577	Syndrome	A characteristic symptom complex.	Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes