| 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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