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Ontology Browser

Term:
pseudoachondroplasia (DOID:0080047)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (0) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
3p deletion syndrome 
46,XX sex reversal 2  
46,XX sex reversal 4  
46,XY sex reversal 10  
46,XY sex reversal 3  
46,XY sex reversal 6  
46,XY sex reversal 9  
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome  
acheiropody  
achondrogenesis +   
achondrogenesis type IA  
achondrogenesis type IB  
achondrogenesis type II  
Achondrogenesis, Type 3 
Achondrogenesis, Type 4 
achondroplasia +   
Achondroplasia and Swiss Type Agammaglobulinemia 
Achondroplastic Dwarfism  
acrocapitofemoral dysplasia  
acrodysostosis +   
Acrodysplasia Scoliosis 
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
acrofacial dysostosis Cincinnati type  
acrokeratosis verruciformis  
acromesomelic dysplasia +   
acromicric dysplasia +   
Acropectorovertebral Dysplasia 
adermatoglyphia  
ADULT syndrome  
adult-onset autosomal dominant demyelinating leukodystrophy  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
advanced sleep phase syndrome +   
agammaglobulinemia 5  
age related macular degeneration +   
Akaba Hayasaka Syndrome 
Alexander disease  
Alzheimer's disease 1 +   
Alzheimer's disease 2  
Alzheimer's disease 3 +   
Alzheimer's disease 4  
Alzheimer's disease 5 
Alzheimer's disease 9  
amelogenesis imperfecta type 1A  
amelogenesis imperfecta type 1B  
amelogenesis imperfecta type 3A  
amelogenesis imperfecta type 3B  
amelogenesis imperfecta type 4  
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia  
Andersen-Tawil syndrome  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
ankylosing spondylitis 2 
ankyrin-B-related cardiac arrhythmia  
anterior segment dysgenesis 1  
anterior segment dysgenesis 4  
antithrombin III deficiency  
aplasia of lacrimal and salivary glands  
apolipoprotein C-III deficiency +   
APP-related cerebral amyloid angiopathy  
arrhythmogenic right ventricular dysplasia 1  
arrhythmogenic right ventricular dysplasia 10  
arrhythmogenic right ventricular dysplasia 11  
arrhythmogenic right ventricular dysplasia 12  
arrhythmogenic right ventricular dysplasia 13  
arrhythmogenic right ventricular dysplasia 2  
arrhythmogenic right ventricular dysplasia 3 
arrhythmogenic right ventricular dysplasia 4 
arrhythmogenic right ventricular dysplasia 5  
arrhythmogenic right ventricular dysplasia 8  
arrhythmogenic right ventricular dysplasia 9  
asphyxiating thoracic dystrophy +   
atelosteogenesis +   
atrial heart septal defect 2  
atrial heart septal defect 5  
atrial heart septal defect 6  
atrial heart septal defect 7  
atrial heart septal defect 8  
atrial heart septal defect 9  
atrial standstill 1  
Auriculoosteodysplasia 
autoimmune lymphoproliferative syndrome type 2A  
autoimmune lymphoproliferative syndrome type 4  
autosomal dominant Aarskog syndrome 
autosomal dominant Alport syndrome  
autosomal dominant beta thalassemia  
autosomal dominant centronuclear myopathy +   
autosomal dominant cerebellar ataxia +   
autosomal dominant chondrodysplasia punctata +  
autosomal dominant congenital deafness with onychodystrophy  
autosomal dominant craniodiaphyseal dysplasia  
autosomal dominant craniometaphyseal dysplasia  
autosomal dominant cutis laxa +   
autosomal dominant distal hereditary motor neuronopathy +   
Autosomal Dominant Dyskeratosis Congenita +   
autosomal dominant Emery-Dreifuss muscular dystrophy 4  
autosomal dominant Emery-Dreifuss muscular dystrophy 5  
autosomal dominant Emery-Dreifuss muscular dystrophy 7  
autosomal dominant familial periodic fever  
autosomal dominant familial visceral neuropathy  
autosomal dominant hyaline body myopathy  
autosomal dominant hypocalcemia +   
autosomal dominant hypophosphatemic rickets  
autosomal dominant isolated ectopia lentis 1  
autosomal dominant keratitis +   
autosomal dominant limb-girdle muscular dystrophy +   
autosomal dominant macrothrombocytopenia TUBB1-related  
autosomal dominant mental retardation 55  
autosomal dominant mental retardation 56  
autosomal dominant microcephaly +   
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques  
autosomal dominant nocturnal frontal lobe epilepsy +   
autosomal dominant non-syndromic intellectual disability +   
autosomal dominant nonsyndromic deafness +   
autosomal dominant osteopetrosis 1  
autosomal dominant osteopetrosis 2  
autosomal dominant polycystic kidney disease +   
autosomal dominant progressive external ophthalmoplegia 1  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6  
autosomal dominant pseudohypoaldosteronism type 1  
autosomal dominant Robinow syndrome 1  
autosomal dominant Robinow syndrome 2  
autosomal dominant Robinow syndrome 3  
autosomal dominant sensory ataxia 1  
autosomal dominant severe congenital neutropenia +   
autosomal dominant sideroblastic anemia 4  
autosomal dominant thrombophilia due to protein S deficiency  
autosomal dominant vitreoretinochoroidopathy  
autosomal dominant Wolfram syndrome  
autosomal dominant woolly hair  
Axenfeld-Rieger syndrome +   
Ayme-Gripp syndrome  
Baby Rattle Pelvic Dysplasia 
Bannayan-Riley-Ruvalcaba syndrome  
Bart-Pumphrey syndrome  
Beare-Stevenson cutis gyrata syndrome  
benign familial hematuria  
Beukes hip dysplasia  
bilateral optic nerve hypoplasia  
Birk-Barel syndrome  
Birt-Hogg-Dube syndrome  
Blau syndrome  
blepharocheilodontic syndrome +   
Blount's disease 
blue color blindness  
Boomerang dysplasia  
Bothnian type palmoplantar keratoderma  
brachydactyly type A1 +   
brachydactyly type A2  
brachydactyly type C  
brachydactyly type D  
brachydactyly-syndactyly syndrome  
brachyolmia +   
branchiooculofacial syndrome  
branchiootorenal syndrome +   
bronchiectasis 1  
bronchiectasis 2  
bronchiectasis 3  
Brooke-Spiegler syndrome  
Brugada syndrome 1  
Brugada syndrome 7  
Brugada syndrome 9  
bullous congenital ichthyosiform erythroderma  
Buschke-Ollendorff syndrome  
C syndrome  
CADASIL 1  
CADASIL 2  
Caffey disease +   
calvarial doughnut lesions with bone fragility  
campomelic dysplasia +   
Camurati-Engelmann disease +   
cardiofaciocutaneous syndrome 1  
cardiofaciocutaneous syndrome 2  
cardiofaciocutaneous syndrome 3  
cardiofaciocutaneous syndrome 4  
Carney complex +   
Carney-Stratakis syndrome  
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 17 multiple types  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 22 multiple types  
cataract 24 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 32 multiple types 
cataract 33  
cataract 37 
cataract 39 multiple types  
cataract 4 multiple types +   
cataract 41  
cataract 42  
cataract 43  
cataract 47  
cataract 5 multiple types  
cataract 6 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
cerebrocostomandibular syndrome  
Charcot-Marie-Tooth disease axonal type 2C  
Charcot-Marie-Tooth disease axonal type 2CC  
Charcot-Marie-Tooth disease axonal type 2F  
Charcot-Marie-Tooth disease axonal type 2K  
Charcot-Marie-Tooth disease axonal type 2L  
Charcot-Marie-Tooth disease axonal type 2N  
Charcot-Marie-Tooth disease axonal type 2O  
Charcot-Marie-Tooth disease axonal type 2P  
Charcot-Marie-Tooth disease axonal type 2Q  
Charcot-Marie-Tooth disease axonal type 2T  
Charcot-Marie-Tooth disease axonal type 2U  
Charcot-Marie-Tooth disease axonal type 2V  
Charcot-Marie-Tooth disease axonal type 2Z  
Charcot-Marie-Tooth disease dominant intermediate A 
Charcot-Marie-Tooth disease dominant intermediate B +   
Charcot-Marie-Tooth disease dominant intermediate C  
Charcot-Marie-Tooth disease dominant intermediate D  
Charcot-Marie-Tooth disease dominant intermediate E  
Charcot-Marie-Tooth disease dominant intermediate F  
Charcot-Marie-Tooth disease dominant intermediate G  
Charcot-Marie-Tooth disease type 1A  
Charcot-Marie-Tooth disease type 1B  
Charcot-Marie-Tooth disease type 1C  
Charcot-Marie-Tooth disease type 1D  
Charcot-Marie-Tooth disease type 1E  
Charcot-Marie-Tooth disease type 1F  
Charcot-Marie-Tooth disease type 1G  
Charcot-Marie-Tooth disease type 2A1  
Charcot-Marie-Tooth disease type 2A2A  
Charcot-Marie-Tooth disease type 2B  
Charcot-Marie-Tooth disease type 2D  
Charcot-Marie-Tooth disease type 2DD  
Charcot-Marie-Tooth disease type 2E  
Charcot-Marie-Tooth disease type 2I  
Charcot-Marie-Tooth disease type 2J  
Charcot-Marie-Tooth disease type 2Y  
Charcot-Marie-Tooth disease type 3  
Charcot-Marie-Tooth disease type 4E  
Charcot-Marie-Tooth disease type 5  
Charcot-Marie-Tooth disease, axonal type 2W  
cherubism +   
childhood onset GLUT1 deficiency syndrome 2  
chondrodysplasia Blomstrand type  
Chondrodysplasia Calcificans Metaphysealis 
chondrodysplasia punctata +   
Chondrodysplasia with Joint Dislocations, GPAPP Type  
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chondrodysplasia-pseudohermaphroditism syndrome  
chromosome 13q14 deletion syndrome  
chromosome 15q11.2 deletion syndrome  
chromosome 15q24 deletion syndrome  
chromosome 15q25 deletion syndrome 
chromosome 17p13.1 deletion syndrome 
chromosome 17q11.2 deletion syndrome  
chromosome 17q12 deletion syndrome  
chromosome 18p deletion syndrome  
chromosome 18q deletion syndrome  
chromosome 19p13.13 deletion syndrome 
chromosome 19q13.11 deletion syndrome  
chromosome 5q12 deletion syndrome 
CINCA syndrome  
cleft palate, cardiac defects, and intellectual disabillity  
cleidocranial dysplasia +   
Cleidorhizomelic Syndrome 
Clouston syndrome  
Cloverleaf Skull Micromelia Thoracic Dysplasia 
CODAS syndrome  
COL4A1-related familial vascular leukoencephalopathy  
Collagenopathy, Type 2 Alpha 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
complex cortical dysplasia with other brain malformations +   
congenital adrenal insufficiency  
congenital central hypoventilation syndrome  
congenital contractural arachnodactyly  
congenital diarrhea 6  
congenital dyserythropoietic anemia type IV  
congenital megabladder  
Congenital Micromelic Dysplasia with Dislocation of Radius +   
congenital muscular dystrophy due to LMNA mutation  
congenital myasthenic syndrome 18  
congenital myasthenic syndrome 1A  
congenital myasthenic syndrome 1B  
congenital myasthenic syndrome 2A  
congenital myasthenic syndrome 3A  
congenital myasthenic syndrome 4A  
congenital myasthenic syndrome 7  
congenital nongoitrous hypothyroidism 2  
congenital nongoitrous hypothyroidism 3 
congenital nongoitrous hypothyroidism 5  
congenital nongoitrous hypothyroidism 6  
congenital nongoitrous hypothyroidism 8  
congenital nystagmus 2 
congenital nystagmus 3 
congenital nystagmus 4 
congenital nystagmus 7 
congenital stationary night blindness autosomal dominant 1  
congenital stationary night blindness autosomal dominant 2  
congenital stationary night blindness autosomal dominant 3  
congenital vertical talus  
Cornelia de Lange syndrome 1  
Cornelia de Lange syndrome 3  
Cornelia de Lange syndrome 4  
cortisone reductase deficiency 2  
Costello syndrome  
Cowden syndrome +   
craniofacial-deafness-hand syndrome  
Crouzon syndrome-acanthosis nigricans syndrome  
CST3-related cerebral amyloid angiopathy +   
Culler-Jones syndrome  
Currarino syndrome  
Czech Dysplasia, Metatarsal Type  
D-2-hydroxyglutaric aciduria 2  
dehydrated hereditary stomatocytosis 1  
dehydrated hereditary stomatocytosis 2  
delta beta-thalassemia +   
Denys-Drash syndrome  
dermatopathia pigmentosa reticularis  
Desbuquois dysplasia +   
dextro-looped transposition of the great arteries 1  
dextro-looped transposition of the great arteries 3  
Diamond Blackfan anemia 15 with mandibulofacial dysostosis  
Diamond-Blackfan anemia 1  
Diamond-Blackfan anemia 10  
Diamond-Blackfan anemia 11  
Diamond-Blackfan anemia 12  
Diamond-Blackfan anemia 13  
Diamond-Blackfan anemia 16  
Diamond-Blackfan anemia 17  
Diamond-Blackfan anemia 18  
Diamond-Blackfan anemia 19  
Diamond-Blackfan anemia 2 
Diamond-Blackfan anemia 20  
Diamond-Blackfan anemia 3  
Diamond-Blackfan anemia 4  
Diamond-Blackfan anemia 5  
Diamond-Blackfan anemia 6  
Diamond-Blackfan anemia 7  
Diamond-Blackfan anemia 8  
Diamond-Blackfan anemia 9  
diaphyseal medullary stenosis with malignant fibrous histiocytoma  
diastrophic dysplasia +   
diffuse cystic renal dysplasia  
DiGeorge syndrome +   
dilated cardiomyopathy 1A  
dilated cardiomyopathy 1AA  
dilated cardiomyopathy 1B  
dilated cardiomyopathy 1C  
dilated cardiomyopathy 1CC  
dilated cardiomyopathy 1D  
dilated cardiomyopathy 1DD  
dilated cardiomyopathy 1E  
dilated cardiomyopathy 1HH  
dilated cardiomyopathy 1II  
dilated cardiomyopathy 1JJ  
dilated cardiomyopathy 1KK  
dilated cardiomyopathy 1NN  
dilated cardiomyopathy 1R  
dilated cardiomyopathy 1S  
dilated cardiomyopathy 1U  
dilated cardiomyopathy 1V  
dilated cardiomyopathy 1Y  
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome  
distal arthrogryposis type 10 
distal arthrogryposis type 1A  
distal arthrogryposis type 1B  
distal arthrogryposis type 2A  
distal arthrogryposis type 2B1  
distal arthrogryposis type 2B2  
distal arthrogryposis type 2B3  
distal arthrogryposis type 3  
distal arthrogryposis type 5  
distal arthrogryposis type 7  
distal myopathy 1  
dominant optic atrophy plus syndrome  
dominant pericentral pigmentary retinopathy 
Doyne honeycomb retinal dystrophy  
Duane-radial ray syndrome  
Dyschondrosteosis and Nephritis 
dysplastic nevus syndrome +   
Dyssegmental Dysplasia, Rolland-Desbuquois Type 
dystonia 12  
dystonia 21 
dystonia 23  
dystonia 24  
dystonia 25  
dystonia 5  
dystonia 9  
dystransthyretinemic hyperthyroxinemia  
ectodermal dysplasia 10A  
ectodermal dysplasia 11A  
ectodermal dysplasia 12  
EEC syndrome +   
Ehlers-Danlos syndrome arthrochalasia type 1  
Ehlers-Danlos syndrome arthrochalasia type 2  
Ehlers-Danlos syndrome classic type 1  
Ehlers-Danlos syndrome classic type 2  
Ehlers-Danlos syndrome spondylodysplastic type 3  
Eiken syndrome  
Ellis-Van Creveld syndrome +   
epidermolysis bullosa simplex Dowling-Meara type  
epidermolysis bullosa simplex generalized type +   
epidermolysis bullosa simplex localized type  
epidermolysis bullosa simplex Ogna type  
epidermolysis bullosa simplex with mottled pigmentation  
epidermolysis bullosa with congenital localized absence of skin and deformity of nails  
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Epiphyseal Dysplasia, Baumann Type 
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
epithelial basement membrane dystrophy  
epithelial recurrent erosion dystrophy  
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 2  
erythrokeratodermia variabilis et progressiva 3  
erythrokeratodermia variabilis et progressiva 6  
essential tremor 1  
essential tremor 2  
essential tremor 4  
essential tremor 5  
exudative vitreoretinopathy 1  
exudative vitreoretinopathy 3 
exudative vitreoretinopathy 5  
exudative vitreoretinopathy 6  
exudative vitreoretinopathy 7  
Fairbank Disease 
familial adenomatous polyposis 1  
familial adult myoclonic epilepsy 1  
familial adult myoclonic epilepsy 2  
familial adult myoclonic epilepsy 3  
familial adult myoclonic epilepsy 4  
familial adult myoclonic epilepsy 6  
familial adult myoclonic epilepsy 7  
familial apolipoprotein A5 deficiency  
familial cold autoinflammatory syndrome 1  
familial cold autoinflammatory syndrome 2  
familial cold autoinflammatory syndrome 3  
familial cold autoinflammatory syndrome 4  
familial encephalopathy with neuroserpin inclusion bodies  
familial episodic pain syndrome 1  
familial episodic pain syndrome 2  
familial episodic pain syndrome 3  
familial erythrocytosis 1  
familial erythrocytosis 3  
familial erythrocytosis 5  
familial expansile osteolysis  
familial hypocalciuric hypercalcemia +   
familial male-limited precocious puberty  
Familial Osteodysplasia, Anderson Type 
familial partial lipodystrophy type 2  
familial partial lipodystrophy type 3  
familial partial lipodystrophy type 4  
familial progressive hyperpigmentation with or without hypopigmentation  
familial temporal lobe epilepsy 1  
familial temporal lobe epilepsy 2  
familial temporal lobe epilepsy 3  
familial temporal lobe epilepsy 4 
familial temporal lobe epilepsy 5  
familial temporal lobe epilepsy 6 
familial temporal lobe epilepsy 7  
familial temporal lobe epilepsy 8  
Fanconi anemia complementation group R  
Fanconi renotubular syndrome 1  
Fanconi renotubular syndrome 3  
Fanconi renotubular syndrome 4  
Faye-Petersen Ward Carey Syndrome 
Feingold syndrome +   
fibrochondrogenesis +   
fibrochondrogenesis 2  
fibrodysplasia ossificans progressiva  
Fibrous Dysplasia of Bone +   
Finnish type amyloidosis  
Floating-Harbor syndrome  
focal nonepidermolytic palmoplantar keratoderma 1  
focal nonepidermolytic palmoplantar keratoderma 2  
focal or diffuse nonepidermolytic palmoplantar keratoderma  
focal segmental glomerulosclerosis 1  
focal segmental glomerulosclerosis 2  
focal segmental glomerulosclerosis 5  
focal segmental glomerulosclerosis 7  
focal segmental glomerulosclerosis 8  
Fraser Jequier Chen Syndrome 
Frasier syndrome  
frontometaphyseal dysplasia 2  
Frontootopalatodigital Osteodysplasia 
geleophysic dysplasia 2  
geleophysic dysplasia 3  
Ghosal Hematodiaphyseal Dysplasia  
giant axonal neuropathy 2  
gingival fibromatosis 5  
gnathodiaphyseal dysplasia  
granular corneal dystrophy +   
Greenberg dysplasia  
Greig cephalopolysyndactyly syndrome  
GRN-related frontotemporal lobar degeneration with TDP43 inclusions  
Guttmacher syndrome  
Hailey-Hailey disease  
Hajdu-Cheney syndrome  
hand-foot-genital syndrome  
hawkinsinuria  
Heinz body anemia  
heparin cofactor II deficiency  
hereditary breast ovarian cancer syndrome  
hereditary diffuse gastric cancer  
hereditary hemorrhagic telangiectasia +   
hereditary lymphedema IA  
hereditary lymphedema IB 
hereditary lymphedema IC  
hereditary lymphedema ID  
hereditary lymphedema II 
hereditary mixed polyposis syndrome 2  
hereditary multiple exostoses +   
hereditary neuropathy with liability to pressure palsies  
hereditary neutrophilia  
hereditary sensory and autonomic neuropathy type 1A  
hereditary sensory and autonomic neuropathy type 1C  
hereditary sensory and autonomic neuropathy type 7  
hereditary sensory neuropathy type 1B 
hereditary sensory neuropathy type 1D  
hereditary sensory neuropathy type 1E  
hereditary sensory neuropathy type 1F  
hereditary spastic paraplegia 10  
hereditary spastic paraplegia 12  
hereditary spastic paraplegia 13  
hereditary spastic paraplegia 17  
hereditary spastic paraplegia 19 
hereditary spastic paraplegia 29 
hereditary spastic paraplegia 31  
hereditary spastic paraplegia 33  
hereditary spastic paraplegia 36 
hereditary spastic paraplegia 37 
hereditary spastic paraplegia 38 
hereditary spastic paraplegia 3A  
hereditary spastic paraplegia 4  
hereditary spastic paraplegia 41 
hereditary spastic paraplegia 42  
hereditary spastic paraplegia 6  
hereditary spastic paraplegia 72  
hereditary spastic paraplegia 73  
hereditary spastic paraplegia 8  
hereditary spherocytosis type 1  
hereditary spherocytosis type 2  
hereditary spherocytosis type 4  
holoprosencephaly 1  
holoprosencephaly 11  
holoprosencephaly 2  
holoprosencephaly 3  
holoprosencephaly 4  
holoprosencephaly 5  
holoprosencephaly 7  
holoprosencephaly 9  
Holt-Oram syndrome  
hyper IgE recurrent infection syndrome 1  
hyperalphalipoproteinemia 1  
hyperekplexia 1  
hyperekplexia 3  
hyperferritinemia-cataract syndrome  
Hyperostosis Frontalis Interna +  
hypertension and brachydactyly syndrome  
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
hypogonadotropic hypogonadism 14 with or without anosmia  
hypogonadotropic hypogonadism 15 with or without anosmia  
hypogonadotropic hypogonadism 16 with or without anosmia  
hypogonadotropic hypogonadism 17 with or without anosmia  
hypogonadotropic hypogonadism 18 with or without anosmia  
hypogonadotropic hypogonadism 19 with or without anosmia  
hypogonadotropic hypogonadism 2 with or without anosmia +   
hypogonadotropic hypogonadism 20 with or without anosmia  
hypogonadotropic hypogonadism 21 with or without anosmia  
hypogonadotropic hypogonadism 3 with or without anosmia  
hypogonadotropic hypogonadism 4 with or without anosmia  
hypogonadotropic hypogonadism 5 with or without anosmia +   
hypogonadotropic hypogonadism 6 with or without anosmia  
hypogonadotropic hypogonadism 9 with or without anosmia  
hypomyelinating leukodystrophy 6  
hypoparathyroidism-retardation-dysmorphism syndrome  
hypophosphatemic nephrolithiasis/osteoporosis 1  
hypophosphatemic nephrolithiasis/osteoporosis 2  
hypoplastic or aplastic tibia with polydactyly  
hypotrichosis 1  
hypotrichosis 11  
hypotrichosis 12  
hypotrichosis 13  
hypotrichosis 2  
hypotrichosis 3  
hypotrichosis 4  
hypotrichosis 5  
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome  
ichthyosis vulgaris +   
IMAGe syndrome  
immunodeficiency 11B  
immunodeficiency 13  
immunodeficiency 14  
immunodeficiency 15A  
immunodeficiency 21  
immunodeficiency 27B  
immunodeficiency 31A  
immunodeficiency 31C  
immunodeficiency 32A  
immunodeficiency 36  
immunodeficiency 39  
immunodeficiency 49  
immunodeficiency 60  
immunodeficiency 70  
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis  
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia  
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1  
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2  
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3  
infantile or early childhood epileptic encephalopathy 1 +   
infantile or early childhood epileptic encephalopathy 2 +   
inflammatory bowel disease 21 
inflammatory bowel disease 3 
intellectual disability-severe speech delay-mild dysmorphism syndrome  
intrahepatic cholestasis of pregnancy 1  
intrahepatic cholestasis of pregnancy 3  
iridogoniodysgenesis syndrome +   
ischiocoxopodopatellar syndrome  
isolated elevated serum creatine phosphokinase levels  
isolated microphthalmia 7  
ITM2B-related cerebral amyloid angiopathy 1  
ITM2B-related cerebral amyloid angiopathy 2  
IVIC syndrome  
Jansen's metaphyseal chondrodysplasia  
Jequier Kozlowski Skeletal Dysplasia 
juvenile glaucoma  
juvenile polyposis syndrome +   
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome  
Kashin-Beck Disease  
Kleefstra syndrome 1  
Kleefstra syndrome 2  
Klippel-Feil syndrome 1  
Klippel-Feil syndrome 3  
Kniest dysplasia  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Kozlowski Tsuruta Taki Syndrome 
LADD syndrome  
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Larsen syndrome  
Larsen Syndromes +   
lateral meningocele syndrome  
lattice corneal dystrophy +   
Leber congenital amaurosis 11  
Leber congenital amaurosis 13  
Lenz-Majewski hyperostotic dwarfism  
Leri-Weill dyschondrosteosis  
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
Li-Fraumeni syndrome +   
Loeys-Dietz syndrome +   
long QT syndrome 1  
long QT syndrome 10 +   
long QT syndrome 11  
long QT syndrome 12  
long QT syndrome 13  
long QT syndrome 14  
long QT syndrome 15  
long QT syndrome 2  
long QT syndrome 3  
long QT syndrome 4  
long QT syndrome 5  
long QT syndrome 6  
long QT syndrome 9  
Lowry Wood Syndrome  
lymphedema-distichiasis syndrome +   
Lynch syndrome +   
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
macrocephaly-autism syndrome  
Madelung Deformity 
Maffucci syndrome 
malignant hyperthermia +   
mandibulofacial dysostosis, Guion-Almeida type  
Marshall syndrome +   
maturity-onset diabetes of the young +   
Meesmann corneal dystrophy 1  
Meesmann corneal dystrophy 2  
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations  
megalencephalic leukoencephalopathy with subcortical cysts 2B  
Meier-Gorlin syndrome 6  
melanoma and neural system tumor syndrome  
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Mesomelic Dysplasia, Savarirayan Type 
metachondromatosis  
Metaphyseal Anadysplasia +   
Metaphyseal Chondrodysplasia +   
metaphyseal dysplasia +   
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 
Metatropic Dwarfism, Type II 
metatropic dysplasia  
Microcephalic Osteodysplastic Primordial Dwarfism +   
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly-Micromelia Syndrome  
Micromelic Dwarfism Fryns Type 
midface dysplasia 
Miller-Dieker lissencephaly syndrome  
mitochondrial DNA depletion syndrome 12a  
Miura type epiphyseal chondrodysplasia  
monilethrix +   
Mowat-Wilson syndrome  
Muckle-Wells syndrome  
Muenke syndrome  
Mullerian aplasia and hyperandrogenism  
multicentric carpotarsal osteolysis syndrome  
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple cutaneous and mucosal venous malformations  
multiple endocrine neoplasia type 1  
multiple endocrine neoplasia type 2A +   
multiple endocrine neoplasia type 2B +   
multiple endocrine neoplasia type 4  
multiple epiphyseal dysplasia +   
multiple epiphyseal dysplasia 1  
multiple epiphyseal dysplasia 2  
multiple epiphyseal dysplasia 3  
multiple epiphyseal dysplasia 5  
multiple epiphyseal dysplasia 6  
multiple epiphyseal dysplasia with myopia and deafness  
myoclonic dystonia 11  
myoclonic dystonia 15 
myoclonic dystonia 26  
myofibrillar myopathy 1  
myofibrillar myopathy 2  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
Naegeli-Franceschetti-Jadassohn syndrome  
nail-patella syndrome +   
nemaline myopathy 1  
nemaline myopathy 4  
nemaline myopathy 6  
nephrotic syndrome type 4  
neurodegeneration with brain iron accumulation 3  
neurofibromatosis +   
neurofibromatosis-Noonan syndrome  
neurogenic scapuloperoneal syndrome Kaeser type  
neurooculocardiogenitourinary syndrome  
nevoid basal cell carcinoma syndrome +   
NFIA-related disorder  
Nievergelt Syndrome 
nonsyndromic congenital nail disorder 1  
nonsyndromic congenital nail disorder 2 
nonsyndromic congenital nail disorder 3  
nonsyndromic congenital nail disorder 5 
nonsyndromic congenital nail disorder 6 
nonsyndromic congenital nail disorder 7 
nonsyndromic congenital nail disorder 8  
Noonan syndrome 1  
Noonan syndrome 10  
Noonan syndrome 3  
Noonan syndrome 4  
Noonan syndrome 5  
Noonan syndrome 6  
Noonan syndrome 7  
Noonan syndrome 8  
Noonan syndrome 9  
Noonan syndrome with multiple lentigines +   
oblique facial clefting 1  
ocular albinism with sensorineural deafness  
Ollier disease  
omodysplasia +   
Opitz GBBB syndrome type II  
Opsismodysplasia  
optic atrophy 1  
optic atrophy 10  
optic atrophy 3  
optic atrophy 4 
optic atrophy 5  
optic atrophy 8 
orofacial cleft 1  
orofacial cleft 13 
orofacial cleft 6  
orofaciodigital syndrome X 
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Osteoarthritis with Mild Chondrodysplasia  
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
Osteochondroma +   
osteogenesis imperfecta +   
osteogenesis imperfecta type 1  
osteogenesis imperfecta type 2 +   
osteogenesis imperfecta type 3  
osteogenesis imperfecta type 4  
osteogenesis imperfecta type 5  
osteoglophonic dysplasia  
osteosclerosis +   
otopalatodigital syndrome spectrum disorder +   
otospondylomegaepiphyseal dysplasia, autosomal dominant  
otospondylomegaepiphyseal dysplasia, autosomal recessive  
ovarian dysgenesis 8  
overhydrated hereditary stomatocytosis  
pachyonychia congenita +   
Pallister-Hall syndrome +   
palmoplantar keratoderma-deafness syndrome  
palmoplantar keratoderma-esophageal carcinoma syndrome  
pancreatic hypoplasia-diabetes-congenital heart disease syndrome  
PAPA syndrome  
paraganglioma +   
paramyotonia congenita of Von Eulenburg  
parastremmatic dwarfism  
Parkinson's disease 1  
Parkinson's disease 17  
Parkinson's disease 21  
Parkinson's disease 22  
Parkinson's disease 3 
Parkinson's disease 4  
Parkinson's disease 8  
paroxysmal extreme pain disorder  
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
Pelger-Huet anomaly +   
Pelvis-Shoulder Dysplasia 
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
permanent neonatal diabetes mellitus +   
Perry syndrome  
Pfeiffer syndrome  
piebaldism +   
pigmented paravenous chorioretinal atrophy  
Pitt-Hopkins syndrome +   
platelet-type bleeding disorder 12 
platelet-type bleeding disorder 14  
platelet-type bleeding disorder 15  
platelet-type bleeding disorder 16  
platelet-type bleeding disorder 17  
platelet-type bleeding disorder 20  
platelet-type bleeding disorder 3  
platelet-type bleeding disorder 9  
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
polycystic liver disease +   
Polydysspondyly 
popliteal pterygium syndrome +   
posterior amorphous corneal dystrophy 
posterior polymorphous corneal dystrophy 1  
posterior polymorphous corneal dystrophy 2  
posterior polymorphous corneal dystrophy 4  
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
primary ciliary dyskinesia 43  
primary failure of tooth eruption  
progressive familial heart block type IA  
progressive familial heart block type IB  
progressive familial heart block type II 
progressive myoclonus epilepsy 7  
progressive osseous heteroplasia  
progressive pseudorheumatoid arthropathy of childhood  
proprotein convertase 1/3 deficiency  
protein C deficiency +   
prothrombin thrombophilia 
proximal symphalangism +   
pseudoachondroplasia  
An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. (DO)
Pseudoachondroplastic Dysplasia 2 
Pubic Bone Dysplasia 
punctate palmoplantar keratoderma type II  
punctate palmoplantar keratoderma type III 
pycnodysostosis  
Rapp-Hodgkin syndrome  
renal coloboma syndrome  
retinal arterial tortuosity  
retinal vasculopathy with cerebral leukodystrophy  
retinitis pigmentosa 1  
retinitis pigmentosa 10  
retinitis pigmentosa 11  
retinitis pigmentosa 13  
retinitis pigmentosa 17  
retinitis pigmentosa 18  
retinitis pigmentosa 27  
retinitis pigmentosa 33  
retinitis pigmentosa 35  
retinitis pigmentosa 37  
retinitis pigmentosa 4  
retinitis pigmentosa 42  
retinitis pigmentosa 60  
retinitis pigmentosa 63 
retinitis pigmentosa 7  
retinitis pigmentosa 70  
retinitis pigmentosa 83  
retinitis pigmentosa 87  
retinitis pigmentosa 89  
retinitis pigmentosa 9  
retinitis pigmentosa-deafness syndrome  
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
ring dermoid of cornea  
Roifman Syndrome  
Romano-Ward Syndrome  
Rubinstein-Taybi syndrome +   
SADDAN  
Saethre-Chotzen syndrome  
SAPHO syndrome  
Saul-Wilson syndrome  
scalp-ear-nipple syndrome  
scapuloperoneal spinal muscular atrophy  
Schaefer Stein Oshman Syndrome 
schizophrenia 1 
schizophrenia 10 
schizophrenia 11 
schizophrenia 12 
schizophrenia 15  
schizophrenia 2 
schizophrenia 3 
schizophrenia 4  
schizophrenia 5  
schizophrenia 6  
schizophrenia 7 
schizophrenia 8 
schneckenbecken dysplasia  
Schnyder corneal dystrophy  
Schopf-Schulz-Passarge syndrome  
Schwartz-Jampel syndrome 1  
sclerosteosis 2  
selective pituitary thyroid hormone resistance  
sepiapterin reductase deficiency  
severe congenital neutropenia 1  
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
SHORT syndrome  
Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency 
Silverman-Handmaker type dyssegmental dysplasia  
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 
Sketetal Dysplasia Coarse Facies Mental Retardation  
Slipped Capital Femoral Epiphyses 
snowflake vitreoretinal degeneration  
solitary median maxillary central incisor  
Sorsby's fundus dystrophy  
Sotos syndrome 1  
Sotos syndrome 2  
spastic ataxia 1  
spastic ataxia 7 
speech-language disorder-1  
spermatogenic failure 10  
spermatogenic failure 11  
spermatogenic failure 12  
spermatogenic failure 2 
spermatogenic failure 3  
spermatogenic failure 32  
spermatogenic failure 36  
spermatogenic failure 4  
spermatogenic failure 8  
Spinal Dysplasia, Anhalt Type 
spinal muscular atrophy with lower extremity predominance +   
split hand-foot malformation 1  
split hand-foot malformation 4  
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia congenita  
spondyloepiphyseal dysplasia Maroteaux type  
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type 
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 
spondyloepiphyseal dysplasia with congenital joint dislocations  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy 
Spondyloepiphyseal Dysplasia, Kimberley Type  
Spondyloepiphyseal Dysplasia, Kondo-Fu Type  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Spondyloepiphyseal Dysplasia, Nishimura Type  
Spondyloepiphyseal Dysplasia, Stanescu Type  
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type  
spondylometaphyseal dysplasia Kozlowski type  
Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy  
Spondylometaphyseal Dysplasia with Corneal Dystrophy  
Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type  
Spondylometaphyseal Dysplasia, Algerian Type 
Spondylometaphyseal Dysplasia, Axial  
Spondylometaphyseal Dysplasia, East-African Type 
Spondylometaphyseal Dysplasia, Sedaghatian Type  
Spondylometaphyseal Dysplasia, Type A4 
Spondylometaphyseal Dysplasia, X-Linked 
Spondyloocular Syndrome, Autosomal Recessive  
Spondyloperipheral Dysplasia  
Spondylospinal Thoracic Dysostosis 
Stickler syndrome 1  
Stickler syndrome 2  
stiff skin syndrome  
STING-associated vasculopathy with onset in infancy  
Stormorken syndrome  
Stuve-Wiedemann Syndrome  
Sweeney-Cox syndrome  
syndactyly type 3  
syndactyly type 4  
syndactyly type 5  
syndactyly-telecanthus-anogenital and renal malformations syndrome  
syndromic microphthalmia 3  
syndromic microphthalmia 5  
syndromic microphthalmia 6  
tarsal-carpal coalition syndrome +   
Teebi Naguib Al Awadi syndrome 
terminal osseous dysplasia  
thanatophoric dysplasia +   
Thiel-Behnke corneal dystrophy  
Thoracolaryngopelvic Dysplasia 
thrombophilia due to activated protein C resistance  
thrombophilia due to HRG deficiency  
thrombophilia due to thrombin defect  
tibial muscular dystrophy  
Tietz syndrome  
Timothy syndrome  
torsion dystonia 1  
torsion dystonia 13 
torsion dystonia 4  
torsion dystonia 6  
torsion dystonia 7  
torsion dystonia with onset in infancy  
Townes-Brocks syndrome +   
Tracheobronchopathia Osteoplastica 
transthyretin amyloidosis  
Treacher Collins syndrome +   
trichodontoosseous syndrome  
Trichorhinophalangeal Syndrome +   
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type II  
trichorhinophalangeal syndrome type III  
Trichoscyphodysplasia 
tuberous sclerosis +   
tubular aggregate myopathy 1  
tubular aggregate myopathy 2  
type 1 diabetes mellitus 2  
Ullrich congenital muscular dystrophy +   
Ulna Metaphyseal Dysplasia Syndrome 
ulnar-mammary syndrome  
Upington Disease 
uveal coloboma-cleft lip and palate-intellectual disability  
vascular type Ehlers-Danlos syndrome +   
Verloes Van Maldergem Marneffe Syndrome 
vertebral anomalies and variable endocrine and T-cell dysfunction  
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Vohwinkel syndrome  
Waardenburg's syndrome +   
Weaver syndrome  
WEISS-KRUSZKA SYNDROME  
Weissenbacher-Zweymuller syndrome +   
Weyers acrofacial dysostosis  
WHIM syndrome  
Williams-Beuren syndrome +   
Wolcott-Rallison syndrome  
Worth syndrome  

Synonyms
Exact Synonyms: PSACH ;   Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome ;   Pseudoachondroplastic dysplasia ;   Pseudoachondroplastic spondyloepiphyseal dysplasia
Primary IDs: MESH:C535819
Alternate IDs: OMIM:177170
Xrefs: GARD:4540 ;   NCI:C118635
Definition Sources: http://en.wikipedia.org/wiki/Pseudoachondroplasia "DO", http://ghr.nlm.nih.gov/condition/pseudoachondroplasia "DO", http://www.healthline.com/galecontent/pseudoachondroplasia "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=750.0 "DO", http://www.wheelessonline.com/ortho/pseudoachondroplasia "DO"

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