Disease Browser
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Parent Node:
Corneal Dystrophies, Hereditary (D003317) |
Parent Node:
Osteochondrodysplasias (D010009) |
..Starting node .. Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
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Child Nodes:
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Sister Nodes: |
.. Achondrogenesis (C579878)
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.. Achondroplasia (D000130) 21
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.. Acquired Hyperostosis Syndrome (D020083)
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.. Acrodysostosis (C538179)
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.. Acrodysplasia scoliosis (C538180)
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.. Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia (C538181)
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.. Acromesomelic dysplasia (C535658) 1
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.. Acromesomelic dysplasia Campailla-Martinelli type (C535659)
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.. Acropectorovertebral Dysplasia, F-Form (C566319)
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.. Akaba Hayasaka syndrome (C535609)
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.. Anauxetic dysplasia (C538256)
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.. Atelosteogenesis type 2 (C535395)
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.. Atelosteogenesis Type 3 (C579928)
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.. Atelosteogenesis, type 1 (C535396)
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.. ATELOSTEOGENESIS, TYPE III (OMIM:108721)
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.. Auriculoosteodysplasia (C538271)
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.. Boomerang dysplasia (C536573)
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.. Brachyolmia (C537098)
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.. Brachyolmia Type 2 (C563218)
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.. Brachyolmia Type 3 (C562963)
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.. Brachyolmia, recessive Hobaek type (C537099)
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.. Camurati-Engelmann Syndrome (D003966) 4
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.. Cantu syndrome (C535572)
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.. Cartilage hair hypoplasia like syndrome (C535915)
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.. Cartilage-hair hypoplasia (C535916)
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.. CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
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.. Chondrodysplasia Calcificans Metaphysealis (C565855)
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.. Chondrodysplasia Punctata (D002806) 13
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.. CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
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.. CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
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.. Chondrodysplasia, blomstrand type (C537914)
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.. Chondrodysplasia, Grebe type (C537915)
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.. Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density (C563330)
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.. Chondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
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.. Cleidocranial Dysplasia (D002973) 5
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.. Cleidorhizomelic syndrome (C536428)
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.. Cloverleaf skull micromelia thoracic dysplasia (C536429)
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.. CODAS syndrome (C536434)
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.. Collagenopathy, type 2 alpha 1 (C535964)
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.. Coloboma of Alar-nasal cartilages with telecanthus (C535967)
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.. Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
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.. Craniodiaphyseal Dysplasia (C562940)
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.. Craniodiaphyseal Dysplasia, Autosomal Dominant (C567275)
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.. Czech dysplasia, metatarsal type (C535766)
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.. Dyggve-Melchior-Clausen syndrome (C535726)
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.. Dyschondrosteosis and Nephritis (C565080)
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.. Eiken Skeletal Dysplasia (C564010)
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.. Ellis-Van Creveld Syndrome (D004613) 6
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.. Enchondromatosis (D004687)
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.. EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE (OMIM:615923)
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.. Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
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.. Epiphyseal Dysplasia, Baumann Type (C563664)
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.. Epiphyseal dysplasia, multiple, 1 (C535501)
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.. Epiphyseal dysplasia, multiple, 2 (C535502)
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.. Epiphyseal dysplasia, multiple, 3 (C535503)
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.. Epiphyseal dysplasia, multiple, 4 (C535504)
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.. Epiphyseal dysplasia, multiple, 5 (C535505)
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.. EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
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.. Epiphyseal Dysplasia, Multiple, with Miniepiphyses (C563735)
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.. Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
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.. Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
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.. Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia (C563736)
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.. Fairbank disease (C536393)
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.. Faye-Petersen Ward Carey syndrome (C537076)
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.. Fibrous Dysplasia of Bone (D005357) 9
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.. Fraser Jequier Chen syndrome (C535481)
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.. Frontometaphyseal dysplasia (C538064)
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.. Frontootopalatodigital Osteodysplasia (C567578)
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.. Ghosal Hematodiaphyseal Dysplasia (C565551)
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.. HEM dysplasia (C535858) 1
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.. Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
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.. Hip Dysplasia, Beukes Type (C564185)
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.. Hyperostosis Frontalis Interna (D006957) 1
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.. Hyperostosis, Cortical, Congenital (D006958) 6
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.. Hypochondrogenesis (C563007)
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.. Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
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.. IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
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.. Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
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.. Jansen type metaphyseal chondrodysplasia (C537564)
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.. Jequier Kozlowski skeletal dysplasia (C537569)
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.. Kashin-Beck Disease (D057767)
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.. Kniest dysplasia (C537207)
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.. Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis (C565452)
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.. Kozlowski Tsuruta Taki syndrome (C537510)
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.. Langer mesomelic dysplasia (C537267)
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.. Langer-Giedion Syndrome (D015826) 2
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.. Laplane Fontaine Lagardere syndrome (C537869)
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.. Larsen Syndrome (C580241)
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.. Larsen syndrome, dominant type (C537873)
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.. Larsen-Like Syndrome (C563914)
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.. Leri-Weil syndrome (C537119)
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.. Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
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.. Lowry Wood syndrome (C537038)
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.. Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
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.. Madelung Deformity (C562398)
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.. Marshall syndrome (C536025)
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.. Megaepiphyseal dwarfism (C536140) 1
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.. Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
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.. Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type (C563589)
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.. Mesomelic dwarfism Reinhardt Pfeiffer type (C537349)
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.. Mesomelic Dysplasia, Savarirayan Type (C565349)
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.. Metaphyseal anadysplasia (C537351)
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.. Metaphyseal Anadysplasia 1 (C567545)
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.. Metaphyseal Anadysplasia 2 (C567771)
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.. Metaphyseal chondrodysplasia Schmid type (C537352)
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.. Metaphyseal chondrodysplasia Spahr type (C537353)
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.. Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands (C537354)
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.. Metaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
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.. Metaphyseal Chondrodysplasia, Kaitila Type (C565400)
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.. Metaphyseal Chondrodysplasia, Pena Type (C565399)
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.. Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586)
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.. Metaphyseal Dysplasia without Hypotrichosis (C563574)
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.. Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
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.. Metaphyseal Dysplasia, Braun-Tinschert Type (C565271)
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.. Metaphyseal undermodeling, spondylar dysplasia, and overgrowth (C537355)
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.. Metatropic dwarfism (C537356)
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.. Metatropic Dwarfism, Type II (C581628)
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.. Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577)
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.. Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
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.. Microcephaly-Micromelia Syndrome (C565382)
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.. Micromelic dwarfism Fryns type (C537556)
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.. Micromelic dysplasia, congenital, with dislocation of radius (C537557)
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.. Multiple Congenital Anomalies Syndrome with Cloverleaf Skull (C564611)
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.. Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
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.. Nievergelt syndrome (C536120)
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.. Nivelon Nivelon Mabille syndrome (C536123)
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.. Omodysplasia 2 (C567664)
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.. Omodysplasia type 1 (C537746)
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.. Opsismodysplasia (C537122)
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.. Osebold Skeletal Dysplasia Osteolysis Syndrome (C566380)
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.. Osteoarthritis with Mild Chondrodysplasia (C565740)
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.. OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
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.. Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
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.. Osteochondroma (D015831) 17
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.. Osteodysplasia, Familial, Anderson Type (C564923)
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.. Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski (C564922)
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.. Osteogenesis Imperfecta (D010013) 27
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.. Osteoglophonic dwarfism (C536050)
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.. Osteosclerosis (D010026) 36
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.. Oto-Palato-digital syndrome type 1 (C536065)
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.. Oto-palato-digital syndrome, type 2 (C538089)
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.. Otopalatodigital Spectrum Disorder (C567577)
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.. OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
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.. Pelvis-Shoulder Dysplasia (C566811)
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.. Pierre Robin syndrome with fetal chondrodysplasia (C535776)
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.. Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (C536329)
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.. Polydysspondyly (C565150)
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.. Pubic Bone Dysplasia (C566735)
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.. Pycnodysostosis (D058631)
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.. Pyle disease (C536252)
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.. Roifman syndrome (C535866)
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.. Schaefer Stein Oshman syndrome (C536627)
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.. Schimke immunoosseous dysplasia (C536629)
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.. Schneckenbecken dysplasia (C536637)
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.. Short Rib-Polydactyly Syndrome (D012779) 3
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.. Short stature syndrome, Brussels type (C537121)
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.. Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
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.. Sketetal dysplasia coarse facies mental retardation (C536671)
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.. Slipped Capital Femoral Epiphyses (D060048)
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.. Smith-McCort Dysplasia (C564589)
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.. Spinal Dysplasia, Anhalt Type (C563348)
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.. Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (C567639)
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.. Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like (C567340)
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.. Spondylodysplasia And Premature Pubarche (C567552)
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.. Spondyloenchondrodysplasia (C535782)
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.. Spondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
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.. Spondyloepimetaphyseal dysplasia with hypotrichosis (C535783)
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.. Spondyloepimetaphyseal Dysplasia With Joint Laxity (C562968)
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.. Spondyloepimetaphyseal dysplasia with multiple dislocations (C535784)
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.. Spondyloepimetaphyseal dysplasia, Genevieve type (C535785)
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.. Spondyloepimetaphyseal Dysplasia, Irapa Type (C562958)
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.. Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related (C563869)
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.. Spondyloepimetaphyseal Dysplasia, Missouri Type (C566574)
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.. Spondyloepimetaphyseal Dysplasia, Pakistani Type (C567551)
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.. Spondyloepimetaphyseal Dysplasia, Shohat Type (C566523)
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.. Spondyloepimetaphyseal dysplasia, sponastrime type (C535786)
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.. Spondyloepimetaphyseal Dysplasia, X-Linked (C564714)
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.. Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies (C564003)
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.. Spondyloepiphyseal Dysplasia Tarda with Mental Retardation (C564796)
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.. Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant (C566658)
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.. Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive (C564797)
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.. Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type (C563772)
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.. Spondyloepiphyseal dysplasia tarda, Toledo type (C535787)
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.. Spondyloepiphyseal Dysplasia with Atlantoaxial Instability (C563472)
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.. Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
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.. Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
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.. Spondyloepiphyseal dysplasia, congenita (C535788)
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.. Spondyloepiphyseal Dysplasia, Kimberley Type (C564252)
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.. SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
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.. Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
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.. Spondyloepiphyseal dysplasia, Omani type (C535789) 1
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.. Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech (C567128)
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.. Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness (C566507)
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.. Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type (C564794)
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.. Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism (C535791)
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.. Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
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.. Spondylometaphyseal dysplasia with dentinogenesis imperfecta (C535792)
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.. Spondylometaphyseal dysplasia, 'corner fracture' type (C535793)
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.. Spondylometaphyseal dysplasia, Algerian type (C535794)
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.. Spondylometaphyseal dysplasia, axial (C535795)
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.. Spondylometaphyseal dysplasia, east-African type (C535796)
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.. Spondylometaphyseal dysplasia, Kozlowski type (C535797)
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.. Spondylometaphyseal dysplasia, Sedaghatian type (C535798)
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.. Spondylometaphyseal Dysplasia, Type A4 (C563803)
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.. Spondylometaphyseal Dysplasia, X-Linked (C563124)
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.. Spondyloocular Syndrome, Autosomal Recessive (C565285)
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.. SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
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.. Spondyloperipheral dysplasia short ulna (C535799)
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.. Spondylospinal Thoracic Dysostosis (C566622)
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.. Strudwick syndrome (C537501)
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.. Stuve-Wiedemann syndrome (C537502)
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.. Teebi Naguib Al Awadi syndrome (C536949)
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.. Ter Haar syndrome (C537274)
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.. TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
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.. Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
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.. Thoracolaryngopelvic dysplasia (C536517)
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.. Tracheobronchopathia osteoplastica (C536977)
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.. Trichoscyphodysplasia (C536557)
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.. Ulna metaphyseal dysplasia syndrome (C536935)
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.. Upington disease (C536472)
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.. Van Buchem disease type 2 (C536527)
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.. Verloes Bourguignon syndrome (C536538)
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.. Verloes Van Maldergem Marneffe syndrome (C536540)
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.. Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
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.. Wolcott-Rallison syndrome (C536739)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD
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