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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Aarskog syndrome +   
acheiropody  
acrocardiofacial syndrome 
acrofacial dysostosis Rodriguez type 
acrofacial dysostosis, Patagonia type 
Acrootoocular Syndrome 
acrorenal syndrome +  
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Anonychia-Ectrodactyly 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME  
Banki Syndrome 
bejel 
Bifid Femur with Monodactylous Ectrodactyly  
bone benign neoplasm +   
Bone Cysts +   
bone development disease +   
bone inflammation disease +   
Bone Malalignment +   
Bone Neoplasms +   
bone remodeling disease +   
bone resorption disease +   
bone structure disease +   
brachydactyly type E1  
brachydactyly type E2  
Braddock Carey Syndrome +   
Camptodactyly 1 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
Camptodactyly Syndrome Guadalajara Type +  
Camptodactyly Taurinuria 
Camptodactyly Vertebral Fusion 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Camptodactyly-Ichthyosis Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Carey-Fineman-Ziter syndrome +   
Carnevale Hernandez Castillo Syndrome 
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly  
Catel Manzke syndrome  
A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. (DO)
Chitayat Meunier Hodgkinson Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
Complex Camptosynpolydactyly  
Coxa Magna 
Coxa Valga 
Cranioacrofacial Syndrome 
Craniosynostosis, Adelaide Type 
cystic echinococcosis  
Daneman Davy Mancer Syndrome 
Deafness, Congenital Onychodystrophy, Recessive Form 
distal arthrogryposis type 1 +   
distal arthrogryposis type 3  
Distal Symphalangism +   
DOORS syndrome  
Dwarfism Stiff Joint Ocular Abnormalities 
Dystelephalangy 
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Ectrodactyly-Cleft Palate Syndrome 
Eiken syndrome  
Endocrine Bone Diseases +   
Eosinophilic Granuloma  
Expansile Bone Lesions 
Extensor Tendons of Fingers, Anomalous Insertion of 
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Fairbank Disease 
Femoral Facial Syndrome 
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
fibular collateral ligament bursitis 
Frints De Smet Fabry Fryns Syndrome 
Frontootopalatodigital Osteodysplasia 
Fuhrmann syndrome  
Genu Valgum +   
Genu Varum +   
geroderma osteodysplasticum  
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Goodman Camptodactyly 
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hairy Palms and Soles 
Hamamy Syndrome  
hand-foot-genital syndrome  
Heart-Hand Syndrome, Slovenian Type  
Hecht Scott Syndrome 
Ho Kaufman Mcalister Syndrome 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
hydrolethalus syndrome +   
Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities  
Infectious Bone Diseases +   
ischemic bone disease +   
IVIC syndrome  
Johnson Munson Syndrome 
Joint Dislocations +   
Keutel Syndrome  
Khalifa Graham Syndrome 
Laurin-Sandrow syndrome  
Leri Pleonosteosis 
Macrodactyly of the Hand 
Mammary-Digital-Nail Syndrome 
Metabolic Bone Diseases +   
Metaphyseal Acroscyphodysplasia 
Michels Caskey Syndrome 
Microcephaly with Mental Retardation and Digital Anomalies  
Mononen-Karnes-Senac syndrome 
Morillo-Cucci Passarge Syndrome 
Muller Barth Menger Syndrome 
Myoectodermal Gonadal Dysgenesis Syndrome  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES  
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures  
Neurofaciodigitorenal Syndrome 
Odontotrichoungual-Digital-Palmar Syndrome 
orbital disease +   
Oroacral Syndrome, Verloes-Koulischer Type 
Oslam syndrome 
osteochondrosis +   
Osteootohepatoenteric Syndrome  
otopalatodigital syndrome spectrum disorder +   
otospondylomegaepiphyseal dysplasia, autosomal dominant  
paracoccidioidomycosis +   
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 
Pfeiffer Tietze Welte Syndrome 
Pierre Robin Sequence with Facial and Digital Anomalies 
Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies 
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
primary hypertrophic osteoarthropathy +   
Progeroid Facial Appearance with Hand Anomalies 
proximal symphalangism +   
Pseudotrisomy 13 Syndrome  
Radial Defect Robin Sequence 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Rhizomelic Dysplasia Patterson Lowry Type 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Robin Sequence and Oligodactyly 
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Rozin Hertz Goodman Syndrome 
Saal Bulas Syndrome 
Sanderson Fraser Syndrome 
Say Field Coldwell Syndrome 
Schinzel Giedion syndrome  
Sclerosing Bone Dysplasia, Mental Retardation 
Second Metatarsal-Metacarpal Syndrome 
Slipped Epiphyses +  
sphenoid sinusitis +  
spinal disease +   
Split Hand, Split Foot, Nystagmus 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondylocamptodactyly 
Stevenson-Carey Syndrome 
Stoll Alembik Dott Syndrome 
Symphalangism with Multiple Anomalies of Hands and Feet 
Symphalangism, C. S. Lewis Type 
syndactyly type 8  
Synpolydactyly 2  
Tabatznik Syndrome 
TARP syndrome  
tarsal-carpal coalition syndrome +   
Teebi hypertelorism syndrome +   
Teebi Kaurah Syndrome 
Tel Hashomer Camptodactyly Syndrome 
terminal osseous dysplasia  
tibial muscular dystrophy  
Tollner Horst Manzke Syndrome 
Tricho-Dento-Osseous Syndrome 1 
trichorhinophalangeal syndrome type III  
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Triphalangeal Thumb +   
Trochlea of the Humerus, Aplasia of 
Tukel syndrome 
Unilateral Adactylia 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
Van Maldergem syndrome +   
Ventricular Extrasystoles Perodactyly Robin Sequence 
visceral leishmaniasis  
Vohwinkel syndrome  
Walbaum Titran Durieux Crepin Syndrome 
Weaver syndrome  
Weyers Ulnar Ray/Oligodactyly Syndrome 
Whyte Murphy Syndrome 
yaws +  
Zimmerman Laband Syndrome +   

Synonyms
Exact Synonyms: CATMANS ;   Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome ;   Index Finger Anomaly With Pierre Robin Syndrome ;   MICROGNATHIA DIGITAL SYNDROME ;   Palatodigital syndrome, Catel-Manzke type ;   Pierre Robin syndrome with hyperphalangy and clinodactyly
Primary IDs: MESH:C535347 ;   MIM:616145
Alternate IDs: DOID:9000014
Xrefs: GARD:28 ;   ORDO:1388
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/18501694/ "DO" "DO"

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