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Ontology Browser

Term:
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome (DOID:0111513)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
brachydactyly +     
Facies +     
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome  
acheiropody  
achondrogenesis +   
achondrogenesis type II  
achondroplasia +   
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 
Al Gazali Aziz Salem Syndrome 
Al Gazali Hirschsprung 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  
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
anterior segment dysgenesis +   
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
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  
Auriculoosteodysplasia 
autoimmune lymphoproliferative syndrome type 2A  
autoimmune lymphoproliferative syndrome type 4  
autosomal dominant Alport syndrome  
autosomal dominant centronuclear myopathy +   
autosomal dominant cerebellar ataxia +   
autosomal dominant chondrodysplasia punctata +  
autosomal dominant chronic granulomatous disease 
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 endosteal hyperostosis  
autosomal dominant familial periodic fever  
autosomal dominant hyaline body myopathy  
autosomal dominant hypocalcemia +   
autosomal dominant hypophosphatemic rickets  
autosomal dominant isolated ectopia lentis 1  
autosomal dominant keratitis  
autosomal dominant keratitis-ichthyosis-deafness syndrome  
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 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 sideroblastic anemia 4  
autosomal dominant type IV Ehlers-Danlos syndrome +   
autosomal dominant Wolfram syndrome  
Axenfeld-Rieger syndrome +   
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp Syndrome  
Ballard syndrome 
Bannayan-Riley-Ruvalcaba syndrome  
Baraitser-Winter syndrome +   
Bart-Pumphrey syndrome  
Beare-Stevenson cutis gyrata syndrome  
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
benign familial hematuria  
Berk-Tabatznik Syndrome 
Beukes hip dysplasia  
bilateral optic nerve hypoplasia  
Birk-Barel syndrome  
Birt-Hogg-Dube syndrome  
Blau syndrome  
blepharocheilodontic syndrome +   
blepharophimosis, ptosis, and epicanthus inversus syndrome  
blepharophimosis-intellectual disability syndrome, SBBYS type  
Blount's disease 
blue color blindness  
Boomerang dysplasia  
Bork Stender Schmidt Syndrome 
Bowen Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
brachydactyly type A1 +   
brachydactyly type A2  
brachydactyly type A3 
brachydactyly type A4  
Brachydactyly Type A5 Nail Dysplasia 
brachydactyly type A6 
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type C  
brachydactyly type D  
Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachydactyly, Long-Thumb Type 
Brachydactyly, Type A2, With Microcephaly 
Brachydactyly, Type E +   
Brachydactyly-Nystagmus-Cerebellar Ataxia 
brachydactyly-preaxial hallux varus syndrome 
brachydactyly-syndactyly syndrome  
brachyolmia +   
Brachytelephalangy Characteristic Facies Kallmann 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
bronchiectasis 1  
bronchiectasis 2  
bronchiectasis 3  
Brooke-Spiegler syndrome  
Brown-Vialetto-Van Laere syndrome +   
Brugada syndrome 1  
Brugada syndrome 7  
Brugada syndrome 9  
Brunoni Syndrome 
bullous congenital ichthyosiform erythroderma  
Burn-Mckeown Syndrome  
CADASIL 1  
CADASIL 2  
Caffey disease +   
campomelic dysplasia +   
Camurati-Engelmann disease +   
cardiofaciocutaneous syndrome +   
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  
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Cerebellofaciodental Syndrome  
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 2A1  
Charcot-Marie-Tooth disease type 2A2 +   
Charcot-Marie-Tooth disease type 2B  
Charcot-Marie-Tooth disease type 2D  
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  
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
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  
CHOPS SYNDROME  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
chromosome 5p13 duplication syndrome 
Chromosome Xq28 Duplication Syndrome 
CINCA syndrome  
Clark-Baraitser Syndrome 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly  
Cleidorhizomelic Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
CODAS syndrome  
Coffin-Siris syndrome +   
COL4A1-related familial vascular leukoencephalopathy  
cold-induced sweating syndrome +   
Collagenopathy, Type 2 Alpha 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Coloboma of Macula and Skeletal Anomalies 
Coloboma of Macula Type B Brachydactyly 
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
Combined Pituitary Hormone Deficiency, 1  
complex cortical dysplasia with other brain malformations +   
congenital adrenal insufficiency  
congenital central hypoventilation syndrome  
congenital diarrhea 6  
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
congenital dyserythropoietic anemia type IV  
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
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 stationary night blindness autosomal dominant 1  
congenital stationary night blindness autosomal dominant 2  
congenital stationary night blindness autosomal dominant 3  
Cornelia de Lange syndrome 1  
Cornelia de Lange syndrome 3  
Cornelia de Lange syndrome 4  
Cortical Blindness, Retardation, and Postaxial Polydactyly 
cortisone reductase deficiency 2  
Costello syndrome  
Cowden syndrome +   
craniometaphyseal dysplasia +   
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age 
Cree Mental Retardation Syndrome 
Crouzon syndrome-acanthosis nigricans syndrome  
Crumpled Helices and Small Mouth 
Cryptomicrotia Brachydactyly Syndrome 
CST3-related cerebral amyloid angiopathy +   
Cubitus Valgus with Mental Retardation and Unusual Facies 
Culler-Jones syndrome  
Cyprus Facial Neuromusculoskeletal Syndrome 
Czech Dysplasia, Metatarsal Type  
D-2-hydroxyglutaric aciduria 2  
Davis Lafer Syndrome 
De Hauwere syndrome 
Deafness-Craniofacial Syndrome 
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Denys-Drash syndrome  
Der Kaloustian Mcintosh Silver Syndrome 
Desbuquois dysplasia +   
dextro-looped transposition of the great arteries 1  
dextro-looped transposition of the great arteries 3  
diastrophic dysplasia +   
Digital Arthropathy-Brachydactyly, Familial  
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  
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal 10q deletion syndrome 
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
distal myopathy 1  
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
dominant optic atrophy plus syndrome  
dominant pericentral pigmentary retinopathy 
Doyne honeycomb retinal dystrophy  
Duane-radial ray syndrome  
Dubowitz syndrome 
Dyschondrosteosis and Nephritis 
dysplastic nevus syndrome +   
dystonia 12  
dystonia 21 
dystonia 23  
dystonia 24  
dystonia 25  
dystonia 5  
dystonia 9  
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectrodactyly Cardiopathy Dysmorphism 
Edinburgh Malformation Syndrome 
EEC syndrome +   
Eiken Skeletal Dysplasia  
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 
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 2  
erythrokeratodermia variabilis et progressiva 3  
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  
FACES Syndrome 
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Faciocardiomelic Syndrome 
Fairbank Disease 
familial apolipoprotein A5 deficiency  
familial cold autoinflammatory syndrome 1  
familial cold autoinflammatory syndrome 2  
familial cold autoinflammatory syndrome 4  
familial encephalopathy with neuroserpin inclusion bodies  
familial erythrocytosis 1  
familial erythrocytosis 3  
familial erythrocytosis 5  
familial hypocalciuric hypercalcemia +   
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  
Faye-Petersen Ward Carey Syndrome 
Feingold syndrome +   
Feingold Trainer Syndrome 
fibrochondrogenesis +   
fibrodysplasia ossificans progressiva  
Fibrous Dysplasia of Bone +   
Fibular Aplasia Ectrodactyly 
fibular hypoplasia and complex brachydactyly  
Filippi Syndrome  
Finnish type amyloidosis  
Fitzsimmons-Guilbert Syndrome  
Floating-Harbor syndrome  
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 +   
Frontootopalatodigital Osteodysplasia 
Fryns Macrocephaly 
Fryns Syndrome 
Geleophysic Dysplasia +   
Ghosal Hematodiaphyseal Dysplasia  
Giacheti Syndrome 
giant axonal neuropathy 2  
Gingival Fibromatosis with Distinctive Facies 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
gnathodiaphyseal dysplasia  
GOMBO Syndrome 
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy  
Granddad Syndrome 
Grange Syndrome  
granular corneal dystrophy +   
Greenberg Dysplasia  
Greig cephalopolysyndactyly syndrome  
GRN-related frontotemporal lobar degeneration with TDP43 inclusions  
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
Hailey-Hailey disease  
Hajdu-Cheney syndrome  
hand-foot-genital syndrome  
Haspeslagh Fryns Muelenaere Syndrome 
hawkinsinuria  
Heart-Hand Syndrome, Spanish Type 
Heinz body anemia  
hereditary breast ovarian cancer syndrome  
hereditary hemorrhagic telangiectasia +   
hereditary lymphedema IA  
hereditary lymphedema IC  
hereditary lymphedema ID  
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 23  
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  
Hirschsprung Disease Type d Brachydactyly 
holoprosencephaly 1  
Holoprosencephaly 10 
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  
hypophosphatasia +   
Hypotonia, Seizures, and Precocious Puberty 
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 31C  
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 Hypotonia with Psychomotor Retardation and Characteristic Facies +   
inflammatory bowel disease 21 
inflammatory bowel disease 3 
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
intellectual disability-severe speech delay-mild dysmorphism syndrome  
intrahepatic cholestasis of pregnancy 1  
intrahepatic cholestasis of pregnancy 3  
iridogoniodysgenesis syndrome +   
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan 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 +   
Kahrizi syndrome  
Kashin-Beck Disease  
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Klippel-Feil syndrome 1  
Klippel-Feil syndrome 3  
Kniest dysplasia  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski Tsuruta Taki Syndrome 
Kozlowski-Krajewska Syndrome 
Kumar Levick Syndrome 
LADD syndrome  
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Larsen syndrome  
Larsen Syndromes +   
Larsen-Like Syndromes +   
lateral meningocele syndrome  
lattice corneal dystrophy +   
Leber congenital amaurosis 11  
Leber congenital amaurosis 13  
Lenz-Majewski hyperostotic dwarfism  
LEOPARD syndrome +   
Leri Pleonosteosis 
Leri-Weill dyschondrosteosis  
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
Li-Fraumeni syndrome +   
Lichtenstein 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 5  
long QT syndrome 6  
long QT syndrome 9  
Lowry Wood Syndrome  
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
lymphedema-distichiasis syndrome +   
Lynch syndrome +   
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Madelung Deformity 
Maffucci syndrome 
malignant hyperthermia +   
Malocclusion and Short Stature 
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Mental Retardation Syndrome, Autosomal  
Marshall syndrome +   
maturity-onset diabetes of the young +   
McDonough Syndrome 
McPherson Clemens Syndrome 
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations  
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation  
Meier-Gorlin syndrome 6  
melanoma and neural system tumor syndrome  
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
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 without Hypotrichosis  
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
Metaphyseal Dysplasia, Braun-Tinschert Type 
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
Metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB) is an autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth. MDMHB) is caused by heterozygous duplication resulting in a gain of function in the RUNX2 gene on chromosome 6p21. (OMIM)
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 
Metatropic Dwarfism, Type II 
metatropic dysplasia  
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
Microcephaly-Micromelia Syndrome  
Micromelic Dwarfism Fryns Type 
midface dysplasia 
Miller-Dieker lissencephaly syndrome  
mitochondrial DNA depletion syndrome 12a  
Miura type epiphyseal chondrodysplasia  
monilethrix +   
Mononen-Karnes-Senac syndrome 
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 +   
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  
Multiple Pterygium Syndrome, X-Linked 
Multiple Synostoses Syndrome 1  
myoclonic dystonia 11  
myoclonic dystonia 15 
myoclonic dystonia 26  
myofibrillar myopathy 1  
myofibrillar myopathy 2  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
nail-patella syndrome +   
nemaline myopathy 1  
nemaline myopathy 4  
nemaline myopathy 6  
nephrotic syndrome type 4  
neurodegeneration with brain iron accumulation 3  
NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES  
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES;   
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
neurofibromatosis +   
nevoid basal cell carcinoma syndrome +   
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
Nievergelt Syndrome 
Night Blindness Skeletal Anomalies Unusual Facies 
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
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  
ocular albinism with sensorineural deafness  
Oculoskeletodental Syndrome  
Ollier disease  
omodysplasia +   
Omodysplasia 2  
Opitz GBBB Syndrome, Type II  
Opitz Trigonocephaly Syndrome  
Opitz-GBBB syndrome +   
Opsismodysplasia  
optic atrophy 1  
optic atrophy 10  
optic atrophy 3  
optic atrophy 4 
optic atrophy 5  
optic atrophy 8  
Oroacral Syndrome, Verloes-Koulischer Type 
orofacial cleft 1  
orofacial cleft 13 
orofacial cleft 6  
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Osteoarthritis with Mild Chondrodysplasia  
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
Osteochondroma +   
Osteodysplasia, Familial, Anderson Type 
osteogenesis imperfecta +   
osteogenesis imperfecta type 1  
osteogenesis imperfecta type 2 +   
osteogenesis imperfecta type 3  
osteogenesis imperfecta type 4  
osteogenesis imperfecta type 5  
osteoglophonic dysplasia  
Osteolysis Syndrome Recessive 
osteosclerosis +   
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otoonychoperoneal Syndrome 
Otopalatodigital Spectrum Disorder  
otospondylomegaepiphyseal dysplasia  
ovarian dysgenesis 8  
pachyonychia congenita +   
Palant Cleft Palate Syndrome 
Pallister-Hall syndrome +   
palmoplantar keratoderma-deafness syndrome  
palmoplantar keratoderma-esophageal carcinoma syndrome  
PAPA syndrome  
paraganglioma +   
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 nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
Partington Anderson Syndrome 
Pelger-Huet anomaly +   
Pelvis-Shoulder Dysplasia 
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
permanent neonatal diabetes mellitus +   
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Perry syndrome  
Pfeiffer Palm Teller Syndrome 
Pfeiffer syndrome  
photosensitive trichothiodystrophy +   
piebaldism +   
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Pitt-Hopkins syndrome +   
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
polycystic liver disease +   
Polydysspondyly 
popliteal pterygium syndrome +   
posterior polymorphous corneal dystrophy 1  
posterior polymorphous corneal dystrophy 2  
Prata Libéral Gonçalves Syndrome 
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
primary failure of tooth eruption  
Progeroid Facial Appearance with Hand Anomalies 
progressive familial heart block type IA  
progressive familial heart block type IB  
progressive familial heart block type II 
progressive myoclonus epilepsy 7  
progressive pseudorheumatoid arthropathy of childhood  
Prolonged Bleeding Time, Brachydactyly, and Mental Retardation  
proximal symphalangism  
pseudoachondroplasia  
Pubic Bone Dysplasia 
punctate palmoplantar keratoderma type III 
pycnodysostosis  
Radioulnar Synostosis Retinal Pigment Abnormalities 
Ramos Arroyo Clark Syndrome 
Rapp-Hodgkin syndrome  
Renal and Mullerian Duct Hypoplasia +   
renal coloboma syndrome  
Renal Dysplasia - Limb Defects Syndrome 
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 9  
retinitis pigmentosa-deafness syndrome  
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Roifman Syndrome  
Roifman-Chitayat Syndrome 
Romano-Ward Syndrome  
Rubinstein-Taybi syndrome +   
Rudiger Syndrome 
Ruvalcaba Syndrome 
SADDAN  
Saethre-Chotzen syndrome  
SAPHO syndrome  
SAUL-WILSON SYNDROME  
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  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Schwartz-Jampel syndrome 1  
sclerosteosis 2  
Seckel syndrome 1  
Seckel Syndrome 3 
selective pituitary thyroid hormone resistance  
sepiapterin reductase deficiency  
Severe Growth Restriction with Distinctive Facies  
Short Stature Syndrome, Brussels Type 
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
SHORT syndrome  
Shprintzen Omphalocele Syndrome 
Sillence Syndrome 
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 
Snijders Blok-Campeau Syndrome  
solitary median maxillary central incisor  
Sorsby's fundus dystrophy  
speech-language disorder-1  
spermatogenic failure 10  
spermatogenic failure 11  
spermatogenic failure 12  
spermatogenic failure 2 
spermatogenic failure 3  
spermatogenic failure 4  
spermatogenic failure 8  
Spinal Dysplasia, Anhalt Type 
Spinocerebellar Ataxia with Dysmorphism 
split hand-foot malformation 1  
split hand-foot malformation 4  
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia congenita  
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 
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, Maroteaux 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 with Bowed Forearms and Facial Dysmorphism 
Spondylometaphyseal Dysplasia with Cone-Rod 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, Kozlowski Type  
Spondylometaphyseal Dysplasia, Sedaghatian Type  
Spondylometaphyseal Dysplasia, Type A4 
Spondylometaphyseal Dysplasia, X-Linked 
Spondyloocular Syndrome, Autosomal Recessive  
Spondyloperipheral Dysplasia  
Spondylospinal Thoracic Dysostosis 
Stickler syndrome +   
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
STING-associated vasculopathy with onset in infancy  
Stormorken syndrome  
Stuve-Wiedemann Syndrome  
Sugarman brachydactyly +  
Sweeney-Cox syndrome  
syndromic X-linked intellectual disability Turner type  
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly  
tarsal-carpal coalition syndrome  
Teebi Naguib Al Awadi syndrome 
temtamy preaxial brachydactyly syndrome  
Ter Haar Syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
Thakker Donnai Syndrome 
thanatophoric dysplasia +   
Thiel-Behnke corneal dystrophy  
Thomas Jewett Raines Syndrome 
Thoracolaryngopelvic Dysplasia 
Thrombocytopenia Robin Sequence 
tibial muscular dystrophy  
Tietz syndrome  
Timothy syndrome  
Tonoki 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 +   
trichohepatoenteric syndrome +   
Trichorhinophalangeal Syndrome +   
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type II  
trichorhinophalangeal syndrome type III  
Trichoscyphodysplasia 
tuberous sclerosis +   
Turnpenny-Fry Syndrome  
type 1 diabetes mellitus 2  
Ullrich congenital muscular dystrophy +   
Ulna Metaphyseal Dysplasia Syndrome 
ulnar-mammary syndrome  
Ulnar/Fibular Ray Defect and Brachydactyly  
Upington Disease 
urofacial syndrome +   
Uruguay Faciocardiomusculoskeletal Syndrome  
uveal coloboma-cleft lip and palate-intellectual disability  
Verheij Syndrome  
Verloes Van Maldergem Marneffe Syndrome 
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION  
VERVERI-BRADY SYNDROME  
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Waardenburg's syndrome +   
Weaver syndrome  
WEISS-KRUSZKA SYNDROME  
Weissenbacher-Zweymuller syndrome +   
WHIM syndrome  
White Forelock with Malformations 
Winter Harding Hyde Syndrome 
Wolcott-Rallison syndrome  
Worth's syndrome  
Zechi-Ceide Syndrome 

Synonyms
Exact Synonyms: MDMHB ;   metaphyseal dysplasia with maxillary hypoplasia and brachydactyly ;   metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly ;   metaphyseal dysplasia, maxillary hypoplasia, brachydactyly
Primary IDs: MESH:C563586
Alternate IDs: DOID:9000850 ;   OMIM:156510
Xrefs: GARD:3568 ;   ORDO:2504
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/23290074, https://www.ncbi.nlm.nih.gov/pubmed/7137223

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.