Ontology Browser

Term:
trichorhinophalangeal syndrome type III (DOID:0080376)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Aarskog syndrome +   
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome  
acheiropody  
achondrogenesis type II  
acrofacial dysostosis Cincinnati type  
acrofacial dysostosis Rodriguez type 
acrofacial dysostosis, Patagonia type 
acrokeratosis verruciformis  
Acrootoocular Syndrome 
acrorenal syndrome +  
ADULT syndrome  
adult-onset autosomal dominant demyelinating leukodystrophy  
advanced sleep phase syndrome +   
age related macular degeneration +   
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 
amelogenesis imperfecta type 1A  
amelogenesis imperfecta type 1B  
amelogenesis imperfecta type 3A  
amelogenesis imperfecta type 3B  
amelogenesis imperfecta type 4  
Andersen-Tawil syndrome  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anonychia-Ectrodactyly 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
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  
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  
autoimmune lymphoproliferative syndrome type 2A  
autoimmune lymphoproliferative syndrome type 4  
autosomal dominant Alport syndrome  
autosomal dominant cerebellar ataxia +   
autosomal dominant chondrodysplasia punctata +  
autosomal dominant chronic granulomatous disease 
autosomal dominant cutis laxa +   
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 hypocalcemia +   
autosomal dominant hypophosphatemic rickets  
autosomal dominant isolated ectopia lentis 1  
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 Parkinson's disease 1  
autosomal dominant Parkinson's disease 4  
autosomal dominant Parkinson's disease 8  
autosomal dominant polycystic kidney disease +   
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 +   
Axenfeld-Rieger syndrome +   
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp Syndrome  
Bamforth-Lazarus syndrome  
Banki Syndrome 
Bannayan-Riley-Ruvalcaba syndrome  
Baraitser-Winter syndrome +   
Bart-Pumphrey syndrome  
Beare-Stevenson cutis gyrata syndrome  
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
Bird Headed Dwarfism Montreal Type 
Birk-Barel syndrome  
Birt-Hogg-Dube syndrome  
Bjornstad syndrome  
Blau syndrome  
blepharocheilodontic syndrome +   
blepharophimosis, ptosis, and epicanthus inversus syndrome  
blepharophimosis-intellectual disability syndrome, SBBYS type  
blue color blindness  
Boomerang dysplasia  
Bowen Syndrome 
Brachycephaly, Trichomegaly, and Developmental Delay  
brachydactyly type A1 +   
brachydactyly type A2  
brachydactyly type C  
brachydactyly type D  
brachydactyly type E1  
brachydactyly type E2  
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Brooke-Spiegler syndrome  
Brooks-Wisniewski-Brown 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  
campomelic dysplasia +   
Camptodactyly 1 
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia 
Camptodactyly Syndrome Guadalajara Type 1 
Camptodactyly Syndrome Guadalajara Type 2 
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  
Camptosynpolydactyly, Complex  
CAPOS Syndrome  
cardiofaciocutaneous syndrome +   
Carnevale Hernandez Castillo Syndrome 
Carney complex +   
Catatrichy 
Catel Manzke Syndrome  
Cerebellofaciodental Syndrome  
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, Foot Deformity of 
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
cherubism +   
Chitayat Meunier Hodgkinson Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
CHOPS SYNDROME  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
chromosome 5p13 duplication syndrome 
Chromosome Xq28 Duplication Syndrome 
Clark-Baraitser Syndrome 
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Cleft Palate, Deafness, and Oligodontia 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
Clouston syndrome  
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
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 Woolly Hair +   
Copper Deficiency, Familial Benign 
Cortical Blindness, Retardation, and Postaxial Polydactyly 
Costello syndrome  
Cowden syndrome +   
Cranioacrofacial Syndrome 
Craniosynostosis, Adelaide Type 
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 
Cubitus Valgus with Mental Retardation and Unusual Facies 
Culler-Jones syndrome  
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome  
Cyprus Facial Neuromusculoskeletal Syndrome 
Daneman Davy Mancer Syndrome 
Davis Lafer Syndrome 
De Hauwere syndrome 
Deafness, Congenital Onychodystrophy, Recessive Form 
Deafness-Craniofacial Syndrome 
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
Denys-Drash syndrome  
Der Kaloustian Mcintosh Silver Syndrome 
Dermoodontodysplasia 
Digitorenocerebral Syndrome  
Digitotalar Dysmorphism 
dilated cardiomyopathy with woolly hair and keratoderma +   
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal 10q deletion syndrome 
Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
Distal Symphalangism +   
Duane-radial ray syndrome  
Dubowitz syndrome 
Dwarfism Stiff Joint Ocular Abnormalities 
dysplastic nevus syndrome +   
Dystelephalangy 
Ectodermal Dysplasia 4, Hair/Nail Type  
Ectodermal Dysplasia 9, Hair/Nail Type  
Ectodermal Dysplasia Alopecia Preaxial Polydactyly 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy  
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
Ectrodactyly Cardiopathy Dysmorphism 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Ectrodactyly-Cleft Palate Syndrome 
Edinburgh Malformation Syndrome 
EEC syndrome +   
Eiken Skeletal Dysplasia  
Extensor Tendons of Fingers, Anomalous Insertion of 
FACES Syndrome 
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Faciocardiomelic Syndrome 
Fairbank Disease 
familial cold autoinflammatory syndrome 4  
familial erythrocytosis 1  
familial erythrocytosis 3  
familial erythrocytosis 5  
Feingold syndrome +   
Feingold Trainer Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
fibrochondrogenesis +   
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
Filippi Syndrome  
FLOTCH Syndrome 
folliculitis +   
Frasier syndrome  
Frias Syndrome 
Fried Goldberg Mundel Syndrome 
Frints De Smet Fabry Fryns Syndrome 
Frontootopalatodigital Osteodysplasia 
Fryns Macrocephaly 
Fryns Syndrome 
Fuhrmann syndrome  
Game Friedman Paradice Syndrome 
Geleophysic Dysplasia +   
Giacheti Syndrome 
Gingival Fibromatosis with Distinctive Facies 
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Goodman Camptodactyly 
Gordon Syndrome  
Granddad Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Mental Deficiency Syndrome of Myhre  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hadziselimovic Syndrome 
Hairy Palms and Soles 
Hajdu-Cheney syndrome  
hand-foot-genital syndrome  
Haspeslagh Fryns Muelenaere Syndrome 
Heart-Hand Syndrome, Slovenian Type  
Hecht Scott Syndrome 
hereditary breast ovarian cancer syndrome  
hereditary hemorrhagic telangiectasia +   
hereditary spastic paraplegia 10  
hereditary spastic paraplegia 12  
hereditary spastic paraplegia 13  
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 73  
hereditary spastic paraplegia 8  
Hirsutism +   
Holoprosencephaly 10 
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holt-Oram syndrome  
hydrolethalus syndrome +   
hypertrichosis +   
Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features 
hypomyelinating leukodystrophy 6  
hypophosphatasia +   
Hypotonia, Seizures, and Precocious Puberty 
hypotrichosis +   
ichthyosis vulgaris +   
Infantile Hypotonia with Psychomotor Retardation and Characteristic 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 SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
iridogoniodysgenesis syndrome +   
Iris Dysplasia Hypertelorism Deafness 
Irons Bhan Syndrome 
Jackson-Weiss Syndrome  
Johnson Munson Syndrome 
juvenile polyposis syndrome +   
Kahrizi syndrome  
Kaler Garrity Stern Syndrome 
Katsantoni Papadakou Lagoyanni Syndrome 
Kaufman Oculocerebrofacial Syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
Keutel Syndrome  
Khalifa Graham Syndrome 
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
LADD syndrome  
Larsen syndrome  
Larsen-like syndrome 
Laurin-Sandrow Syndrome  
LEOPARD syndrome +   
Leri Pleonosteosis 
Li-Fraumeni syndrome +   
Lichtenstein Syndrome 
Loeys-Dietz syndrome +   
Lymphedema, Cardiac Septal Defects, And Characteristic Facies 
Lynch syndrome +   
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Macrodactyly of the Foot 
Macrodactyly of the Hand 
malignant hyperthermia +   
Malocclusion and Short Stature 
Mammary-Digital-Nail Syndrome 
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Mental Retardation Syndrome, Autosomal 
Martinez Monasterio Pinheiro Syndrome 
maturity-onset diabetes of the young +   
McCune Albright syndrome  
McDonough Syndrome 
McPherson Clemens Syndrome 
Menkes disease +   
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 
Metacarpal 4 5 Fusion  
Metaphyseal Acroscyphodysplasia 
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly  
Metaphyseal Dysplasia with Maxillary Hypoplasia with or without Brachydactyly  
Metatarsus Varus, Type I 
Michels Caskey Syndrome 
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism  
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
mitochondrial DNA depletion syndrome 12a  
monilethrix +   
Mononen-Karnes-Senac syndrome 
Monophalangy of Great Toe 
Morillo-Cucci Passarge Syndrome 
Mowat-Wilson syndrome  
Muckle-Wells syndrome  
Muller Barth Menger Syndrome 
multiple cutaneous and mucosal venous malformations  
Multiple Endocrine Neoplasia +   
Multiple Pterygium Syndrome, X-Linked 
myofibrillar myopathy 1  
myofibrillar myopathy 2  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
nail-patella syndrome +   
Naxos Disease  
Neurofaciodigitorenal Syndrome 
neurofibromatosis +   
nevoid basal cell carcinoma syndrome +   
NF1 Microduplication Syndrome 
Nicolaides Baraitser Syndrome  
Night Blindness Skeletal Anomalies Unusual Facies 
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
ocular albinism with sensorineural deafness  
oculodentodigital dysplasia +   
Oculootoradial Syndrome  
Oculotrichodysplasia 
Odontotrichoungual-Digital-Palmar Syndrome 
Omodysplasia 2  
Opitz GBBB Syndrome, Type II  
Opitz Trigonocephaly Syndrome  
Oroacral Syndrome, Verloes-Koulischer Type 
Oslam syndrome 
Osteolysis Syndrome Recessive 
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otoonychoperoneal Syndrome 
Otopalatodigital Spectrum Disorder  
ovarian dysgenesis 8  
pachyonychia congenita +   
Palant Cleft Palate Syndrome 
Pallister-Hall syndrome +   
paraganglioma +   
Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV 
Partington Anderson Syndrome 
Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
Pelger-Huet anomaly +   
permanent neonatal diabetes mellitus +   
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis  
Pfeiffer Palm Teller Syndrome 
Pfeiffer Tietze Welte Syndrome 
photosensitive trichothiodystrophy +   
Photosensitive Trichothiodystrophy 1  
piebaldism +   
Pierpont syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
Pili Annulati 
Pili Multigemini 
Pili Torti +  
Pituitary Hormone Deficiency, Combined, 1  
polycystic liver disease +   
popliteal pterygium syndrome +   
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
Progeroid Facial Appearance with Hand Anomalies 
proximal symphalangism  
Pseudofolliculitis Barbae  
Pseudomonilethrix 
Pseudotrisomy 13 Syndrome 
punctate palmoplantar keratoderma type III 
Radial Defect Robin Sequence 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Ramos Arroyo Clark Syndrome 
Rapp-Hodgkin syndrome  
Ray Peterson Scott Syndrome 
Renal and Mullerian Duct Hypoplasia +   
renal coloboma syndrome  
Renal Dysplasia - Limb Defects Syndrome 
Rhizomelic Dysplasia Patterson Lowry Type 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Rodrigues Blindness 
Roifman-Chitayat Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Rudiger Syndrome 
Ruvalcaba Syndrome 
Saal Bulas Syndrome 
SADDAN  
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Say Field Coldwell syndrome 
Schinzel-Giedion Syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Seckel syndrome 1  
Seckel Syndrome 3 
Second Metatarsal-Metacarpal Syndrome 
Severe Growth Restriction with Distinctive Facies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Shprintzen Omphalocele Syndrome 
Skin Fragility-Woolly Hair Syndrome  
Snijders Blok-Campeau Syndrome  
Spinocerebellar Ataxia with Dysmorphism 
Split Hand Split Foot Nystagmus 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondylocamptodactyly 
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia congenita  
Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 
Stickler syndrome +   
Stoll Alembik Dott Syndrome 
superficial mycosis +  
Symphalangism with Multiple Anomalies of Hands and Feet 
Symphalangism, C. S. Lewis Type 
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly  
Synpolydactyly 2  
Synpolydactyly with Foot Anomalies  
Tabatznik Syndrome 
Talipes +   
Talonavicular Coalition 
Tarsal Coalition 
tarsal-carpal coalition syndrome  
Teebi Kaurah Syndrome 
Teebi Syndrome 
Tel Hashomer Camptodactyly Syndrome 
Terminal Osseous Dysplasia and Pigmentary Defects  
Thakker Donnai Syndrome 
Thomas Jewett Raines Syndrome 
Thrombocytopenia Robin Sequence 
Tietz syndrome  
Timothy syndrome  
tinea capitis +  
Tollner Horst Manzke Syndrome 
Townes-Brocks syndrome +   
transthyretin amyloidosis  
Treacher Collins syndrome +   
Tricho-Dento-Osseous Syndrome  
Tricho-Dento-Osseous Syndrome 1 
Trichodysplasia-Xeroderma 
Trichohepatoenteric Syndrome +   
Trichohepatoneurodevelopmental Syndrome  
TRICHOMEGALY  
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type II  
trichorhinophalangeal syndrome type III  
An autosomal dominant disease that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23. (DO)
Trichostasis Spinulosa 
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
Triphalangeal Thumb +   
tuberous sclerosis +   
Tukel Syndrome 
Turnpenny-Fry Syndrome 
type 1 diabetes mellitus 2  
Ulnar Hypoplasia Lobster Claw Deformity of Feet 
Uncombable Hair Syndrome +   
Unilateral Adactylia 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
urofacial syndrome +   
Uruguay Faciocardiomusculoskeletal Syndrome  
Van Maldergem syndrome +   
Ventricular Extrasystoles Perodactyly Robin Sequence 
Verheij Syndrome  
Vertical Talus, Congenital  
VERVERI-BRADY SYNDROME  
Vohwinkel Syndrome  
Waardenburg's syndrome +   
Walbaum Titran Durieux Crepin Syndrome 
Weaver syndrome  
Weyers Ulnar Ray/Oligodactyly Syndrome 
White Forelock with Malformations 
Winter Harding Hyde Syndrome 
Woolly Hair, Autosomal Recessive +   
Zechi-Ceide Syndrome 
Zimmerman Laband Syndrome  

Synonyms
Exact Synonyms: Sugio-Kajii Syndrome ;   TRPS3 ;   trichorhinophalangeal syndrome type 3
Primary IDs: MESH:C566033
Alternate IDs: DOID:9006825 ;   OMIM:190351 ;   RDO:0014513
Definition Sources: https://rarediseases.info.nih.gov/diseases/7802/disease

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.