Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia (DOID:9006444)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0)
Parent Terms Term With Siblings Child Terms
22q11 Deletion Syndrome +   
3MC syndrome +   
acheiropody  
Acrootoocular Syndrome 
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Alazami Syndrome  
Alazami-Yuan Syndrome  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Arthrogryposis Multiplex Congenita Whistling Face 
asphyxiating thoracic dystrophy +   
Asymmetric Short Stature Syndrome 
Au-Kline Syndrome  
Axenfeld-Rieger syndrome type 1  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baker Vinters Syndrome 
Baraitser-Winter syndrome +   
Biemond Syndrome II 
Birk-Barel syndrome  
Blepharochalasis and Double Lip 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
brachydactyly type E1  
brachydactyly type E2  
Brachymesomelia Renal Syndrome 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Cleft Anomalies 
Calvarial Hyperostosis 
Camptodactyly Syndrome Guadalajara Type 2 
Camptosynpolydactyly, Complex  
CAPOS Syndrome  
CEBALID Syndrome  
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
CHITAYAT SYNDROME  
chromosome 13q14 deletion syndrome  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
Chromosome 18 Pericentric Inversion 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome 
Cleft Palate, Deafness, and Oligodontia 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
cocoon syndrome  
CODAS syndrome  
combined oxidative phosphorylation deficiency 2  
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder  
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
congenital vertical talus  
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
Costello syndrome  
Cousin Syndrome  
Cranioacrofacial Syndrome 
craniodiaphyseal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells 
Craniofacial Dyssynostosis 
craniofacial-deafness-hand syndrome  
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Craniosynostosis, Adelaide Type 
Crossed Polydactyly, Type I  
Crossed Polysyndactyly 
Crouzon syndrome +   
Culler-Jones syndrome  
Curly Hair-Acral Keratoderma-Caries Syndrome 
Daneman Davy Mancer Syndrome 
Deafness, Congenital Onychodystrophy, Recessive Form 
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
Diaphanospondylodysostosis  
Digitotalar Dysmorphism 
distal arthrogryposis type 6 
Distal Symphalangism +   
DNA ligase IV deficiency  
Donohue syndrome  
DOORS syndrome  
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Eiken syndrome  
Erosive Arthropathy 
EVEN-PLUS SYNDROME  
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Faciocardiomelic Syndrome 
Fairbank Disease 
FG Syndrome 5 
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
Floating-Harbor syndrome  
Forebrain Defects  
Fountain Syndrome 
Fragile Site 16p12 
Fraser-Like Syndrome 
Frias Syndrome 
Fried Goldberg Mundel Syndrome 
Frints De Smet Fabry Fryns Syndrome 
Fronto-Facio-Nasal Dysplasia 
Frontonasal Dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Fuhrmann syndrome  
Game Friedman Paradice Syndrome 
Garret Tripp Syndrome 
geleophysic dysplasia +   
Genitopatellar Syndrome  
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grant Syndrome 
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hairy Palms and Soles 
Hall Riggs Mental Retardation Syndrome 
hand-foot-genital syndrome  
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Hecht Scott Syndrome 
Hennekam syndrome +   
Hirschsprung Disease Polydactyly Heart Disease 
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect 
holoprosencephaly +   
holoprosencephaly 9  
Humeroradial Synostosis with Craniofacial Anomalies 
hydrolethalus syndrome +   
Hypertelorism +   
Hypoplasia of Tibia with Polydactyly 
hypoplastic or aplastic tibia with polydactyly  
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
Jackson-Weiss syndrome  
Jequier Kozlowski Skeletal Dysplasia 
Johnson Munson Syndrome 
Jones Hersh Yusk Syndrome 
Juberg Hayward Syndrome  
Kapur Toriello Syndrome 
Keppen-Lubinsky Syndrome  
Kleefstra syndrome +   
Klippel-Feil syndrome 4  
Kosztolanyi Syndrome 
Kozlowski-Krajewska Syndrome 
Larsen-like syndrome B3GAT3 type  
Laurence Prosser Rocker Syndrome 
Laurin-Sandrow syndrome  
Leichtman Wood Rohn Syndrome 
LEOPARD syndrome +   
Linear Skin Defects with Multiple Congenital Anomalies 2  
Liver Fibrocystic Disease and Polydactyly 
Loeys-Dietz syndrome +   
Loucks-Innes Syndrome  
Lujan Fryns Syndrome  
Macrocephaly +   
Macrodactyly of the Foot 
Mammary-Digital-Nail Syndrome 
Mandibuloacral Dysplasia with Type B Lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Maroteaux Fonfria Syndrome 
Marshall syndrome +   
Marshall-Smith syndrome  
Maxillofacial Abnormalities +   
McKusick-Kaufman syndrome  
Meckel syndrome 13  
Meckel syndrome 4  
Meckel-Like Cerebrorenodigital Syndrome 
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome +   
Menke-Hennekam Syndrome +   
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Metatarsus Varus, Type I 
Mexican Cardiomelic Dysplasia 
microcephaly +   
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Mononen-Karnes-Senac syndrome 
Monophalangy of Great Toe 
Morillo-Cucci Passarge Syndrome 
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
Mullegama-Klein-Martinez syndrome  
Multisystem Autoimmune Disease, with Facial Dysmorphism  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nablus Mask-Like Facial Syndrome 
Neurofaciodigitorenal Syndrome 
Nicolaides Baraitser Syndrome  
Noonan syndrome +   
Oculoauriculofrontonasal Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculootofacial Dysplasia +   
Odontotrichoungual-Digital-Palmar Syndrome 
Orbital Margin, Hypoplasia of 
orofaciodigital syndrome +   
Oslam syndrome 
Otofacioosseous-Gonadal Syndrome 
otopalatodigital syndrome spectrum disorder +   
Pallister W Syndrome 
Pallister-Hall syndrome +   
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Pashayan Syndrome 
Patterson Stevenson Syndrome  
Pfeiffer Mayer Syndrome 
Pfeiffer Tietze Welte Syndrome 
Plagiocephaly +   
Platybasia +  
Pointer Syndrome 
Polydactyly Myopia Syndrome 
Postaxial Polydactyly +   
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
Posterior Exchondrosis of Pinna 
Potato Nose 
Preauricular Fistulae, Congenital 
Preaxial Polydactyly +   
Preaxial Polydactyly II  
Prieto syndrome 
Pseudoaminopterin Syndrome 
Pseudotrisomy 13 Syndrome 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Radial Defect Robin Sequence 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Ray Peterson Scott Syndrome 
Reardon Hall Slaney syndrome 
Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Richieri Costa Guion-Almeida Syndrome 
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robinow syndrome +   
Rommen Mueller Sybert Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Sandhaus Ben-Ami Syndrome 
Santos Mateus Leal Syndrome 
Santos Syndrome 
Say Meyer Syndrome  
SC phocomelia syndrome  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome 
Schinzel-Giedion Syndrome  
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Second Metatarsal-Metacarpal Syndrome 
Sener Syndrome 
Short Stature and Facioauriculothoracic Malformations 
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies  
Short Stature-Obesity Syndrome 
Silver-Russell syndrome +   
Simosa Cranio Facial Syndrome 
Smith-Kingsmore Syndrome  
Sonoda Syndrome 
Splenogonadal Fusion Limb Defects Micrognatia 
Split Hand Split Foot Nystagmus 
split hand-foot malformation 1 with sensorineural hearing loss  
Split-Foot Malformation with Mesoaxial Polydactyly  
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
Spondyloocular Syndrome, Autosomal Recessive  
Stoll Alembik Dott Syndrome 
Sweeney-Cox syndrome  
Symphalangism with Multiple Anomalies of Hands and Feet 
syndactyly type 4  
Syndactyly-Polydactyly-Earlobe Syndrome 
syndromic microphthalmia 8  
syndromic X-linked intellectual disability Abidi type 
Synpolydactyly 2  
Synpolydactyly 3 
Synpolydactyly with Foot Anomalies 
Talipes +   
Talonavicular Coalition 
Tarsal Coalition 
tarsal-carpal coalition syndrome  
Teebi Shaltout Syndrome 
Teebi Syndrome 
Telecanthus +   
Temtamy syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
Tetrasomy X 
Thai Symphalangism Syndrome 
Tibia Absent Polydactyly Arachnoid Cyst 
Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 
Tollner Horst Manzke Syndrome 
trichodontoosseous syndrome  
trichorhinophalangeal syndrome type III  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Ulnar Hypoplasia Lobster Claw Deformity of Feet 
Urioste Martinez-Frias Syndrome 
Van Bogaert-Hozay Syndrome 
Van Maldergem syndrome +   
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
Weaver syndrome  
WEISS-KRUSZKA SYNDROME  
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Winter Shortland Temple Syndrome  
Worth syndrome  
Zechi-Ceide Syndrome 
Zimmerman Laband Syndrome +   

Synonyms
Exact Synonyms: Brachyphalangy, polydactyly and absent tibiae
Primary IDs: MESH:C537100
Alternate IDs: OMIM:609945

paths to the root

NHLBI Logo

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