| Parent Terms |
Term With Siblings |
Child Terms |
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Adrenocortical Hypofunction, Chronic Primary Congenital
adrenocorticotropic hormone deficiency
advanced sleep phase syndrome 1
advanced sleep phase syndrome 2
advanced sleep phase syndrome 3
age related macular degeneration 8
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
Alpha-2-Deficient Collagen Disease
Angel Shaped Phalangoepiphyseal Dysplasia
atrial heart septal defect 3
atrial heart septal defect 4
autoimmune lymphoproliferative syndrome +
Baby Rattle Pelvis Dysplasia
Bazopoulou Kyrkanidou Syndrome
Bellini Chiumello Rimoldi Syndrome
Bent Bone Dysplasia Syndrome
Bone Dysplasia, Lethal, Holmgren Type
Brachioskeletogenital Syndrome
Brachymesomelia Renal Syndrome
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
camptodactyly-tall stature-scoliosis-hearing loss syndrome
cataract 1 multiple types
cataract 10 multiple types
cataract 11 multiple types +
cataract 12 multiple types
cataract 13 with adult i phenotype
cataract 14 multiple types
cataract 15 multiple types
cataract 16 multiple types
cataract 2 multiple types
cataract 20 multiple types
cataract 21 multiple types
cataract 26 multiple types
cataract 3 multiple types
cataract 31 multiple types
cataract 46 juvenile-onset
cataract 5 multiple types
cataract 8 multiple types
cataract 9 multiple types
Cenani-Lenz syndactyly syndrome
Cervical Vertebral Dysplasia
complement factor I deficiency
complex cortical dysplasia with other brain malformations 1
complex cortical dysplasia with other brain malformations 2
complex cortical dysplasia with other brain malformations 3
complex cortical dysplasia with other brain malformations 4
complex cortical dysplasia with other brain malformations 5
complex cortical dysplasia with other brain malformations 6
complex cortical dysplasia with other brain malformations 7
congenital hemolytic anemia +
Congenital Hepatic Fibrosis
congenital hypoplastic anemia +
congenital muscular dystrophy +
congenital myasthenic syndrome +
Congenital Pain Insensitivity +
Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
craniolenticulosutural dysplasia
Deafness Conductive Ptosis Skeletal Anomalies
desquamative interstitial pneumonia
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma
Doughnut Lesions of Skull, Familial
Dysplasia Epiphysealis Hemimelica +
Familial Dysalbuminemic Hyperthyroxinemia
Familial Hemophagocytic Lymphohistiocytoses +
familial hypertrophic cardiomyopathy +
Familial Lipochrome Histiocytosis
Familial Mixed Cryoglobulinemia
Familial Temporal Epilepsy +
Fryns Hofkens Fabry Syndrome
Gurrieri Sammito Bellussi Syndrome
Hall Riggs Mental Retardation Syndrome
Hereditary Eye Diseases +
Hereditary Neoplastic Syndromes +
hyperimmunoglobulin syndrome +
hypogonadotropic hypogonadism 5 with or without anosmia +
Immunodeficiency 38, with Basal Ganglia Calcification
inherited blood coagulation disease +
inherited metabolic disorder +
Isolated Prolactin Deficiency
Kantaputra Gorlin Syndrome
Kozlowski Rafinski Klicharska Syndrome
Kozlowski Warren Fisher Syndrome
Lenz Majewski Hyperostotic Dwarfism
Lissencephaly Type III and Bone Dysplasia
Macroepiphyseal Dysplasia, McAlister Coe Type
Membranous Cranial Ossification, Delayed
Mesomelic Dysplasia, Camera Type
Mesomelic Limb Shortening and Bowing
Miura type epiphyseal chondrodysplasia
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY
Nervous System Heredodegenerative Disorders +
nevoid basal cell carcinoma syndrome +
Nonimmune Chronic Idiopathic Neutropenia, Adult
osteochondrodysplasia + Abnormal development of cartilage and bone.
Osteosclerosis with Ichthyosis and Premature Ovarian Failure
Parotidomegaly, Hereditary Bilateral
Patterson Pseudoleprechaunism Syndrome
platelet-type bleeding disorder 10
polycystic kidney disease +
primary hypertrophic osteoarthropathy +
progressive familial intrahepatic cholestasis +
pulmonary alveolar microlithiasis
Radius Absent Anogenital Anomalies
Rhizomelic Dysplasia Patterson Lowry Type
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa
Roifman-Chitayat Syndrome
Sacral Agenesis with Vertebral Anomalies
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities
SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES
Shwachman-Diamond Syndrome 2
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification
split hand-foot malformation +
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spranger Schinzel Myers Syndrome
Stoll Levy Francfort Syndrome
Trichoodontoonychial Dysplasia
Ulnar Hypoplasia with Mental Retardation
Vertebral Body Fusion Overgrowth
Wiedemann Oldigs Oppermann Syndrome
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| Synonyms |
| Exact Synonyms: |
Congenital anomaly of cartilage
;
Dyschondroplasia
;
Dyschondroplasias
;
Late Onset Spondyloepiphyseal Dysplasia
;
Late Spondyloepiphyseal Dysplasia
;
MNS
;
Melnick Needles Osteodysplasty
;
Melnick Needles Syndrome
;
Multiple Epiphyseal Dysplasia
;
Myotonic Chondrodystrophy
;
Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities
;
Osteochondrodysplasia syndrome
;
Osteodysplasty of Melnick and Needles
;
SJA Syndrome
;
Sost Sclerosing Bone Dysplasia
;
Spondylo-Epimetaphyseal Dysplasia With Myotonia
;
cartilage development disorder
;
chondrodystrophic myotonia
;
chondrodystrophy
;
osteochondrodysplasias
;
spondyloepiphyseal dysplasia
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| Narrow Synonyms: |
chondrodysplasia
;
chondrodysplasia, disproportionate short-limbed
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| Broad Synonyms: |
TRIP11-related condition
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| Primary IDs: |
MESH:D010009
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| Alternate IDs: |
OMIA:000187
;
OMIA:001315
;
OMIA:001886
;
OMIM:184260
;
RDO:0000496
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| Xrefs: |
NCI:C34466
;
NCI:C84978 |
| Definition Sources: |
MESH:D010009, http://en.wikipedia.org/wiki/Osteochondrodysplasia, http://www.medcyclopaedia.com/library/topics/volume_iii_1/o/osteochondrodysplasia.aspx |
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