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Ontology Browser

Term:
trichorhinophalangeal syndrome type III (DOID:0080376)
Annotations: Rat: (15) Mouse: (15) Human: (16) Chinchilla: (14) Bonobo: (15) Dog: (14) Squirrel: (15) Pig: (15)
Parent Terms Term With Siblings Child Terms
3p deletion syndrome  
46,XX sex reversal 2  
46,XX sex reversal 4  
46,XX sex reversal 5  
46,XY sex reversal 10  
46,XY sex reversal 3  
46,XY sex reversal 6  
46,XY sex reversal 9  
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  
acromelic frontonasal dysostosis  
Acrootoocular Syndrome 
acrorenal syndrome +  
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 +   
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  
amyotrophic neuralgia  
Andersen-Tawil syndrome  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
ankylosing spondylitis 2 
ankyrin-B-related cardiac arrhythmia  
Anonychia-Ectrodactyly 
Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 
anterior segment dysgenesis 1  
anterior segment dysgenesis 4  
antithrombin III deficiency  
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 
aortic valve disease 1  
aortic valve disease 2  
aortic valve disease 3  
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 12  
arrhythmogenic right ventricular dysplasia 13  
arrhythmogenic right ventricular dysplasia 14  
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  
atrial standstill 1  
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 dystrophic epidermolysis bullosa +   
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 intellectual developmental disorder +   
autosomal dominant isolated ectopia lentis 1  
autosomal dominant keratitis +   
autosomal dominant limb-girdle muscular dystrophy +   
autosomal dominant macrothrombocytopenia TUBB1-related  
autosomal dominant microcephaly +   
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques  
autosomal dominant nocturnal frontal lobe epilepsy +   
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 spondyloepiphyseal dysplasia tarda 
autosomal dominant thrombophilia due to protein S deficiency  
autosomal dominant vitreoretinochoroidopathy  
autosomal dominant Wolfram syndrome  
autosomal dominant woolly hair  
Axenfeld-Rieger syndrome +   
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp syndrome  
Bainbridge-Ropers syndrome  
Bamforth-Lazarus syndrome  
Banki Syndrome 
Baraitser-Winter syndrome +   
Baraitser-Winter syndrome 1  
Baraitser-Winter syndrome 2  
Bart-Pumphrey syndrome  
Beare-Stevenson cutis gyrata syndrome  
Beaulieu-Boycott-Innes Syndrome  
Beemer Ertbruggen Syndrome 
benign familial hematuria  
benign familial infantile seizures 1 
benign familial infantile seizures 2  
benign familial infantile seizures 3  
benign familial infantile seizures 5  
benign familial infantile seizures 6  
Beukes hip dysplasia  
bilateral optic nerve hypoplasia  
Bird Headed Dwarfism Montreal Type 
Birk-Barel syndrome  
Birt-Hogg-Dube syndrome  
Bjornstad syndrome  
Blau syndrome  
blepharocheilodontic syndrome +   
blepharophimosis-intellectual disability syndrome, SBBYS type  
blue color blindness  
Boomerang dysplasia  
Bosch-Boonstra-Schaaf optic atrophy syndrome  
Bothnian type palmoplantar keratoderma  
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  
brachydactyly-syndactyly syndrome  
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
Braddock Carey Syndrome +  
brain small vessel disease 1  
brain small vessel disease 2  
branchiooculofacial syndrome  
branchiootorenal syndrome +   
bronchiectasis 1  
bronchiectasis 2  
bronchiectasis 3  
Brooke-Spiegler syndrome  
Brugada syndrome 1  
Brugada syndrome 7  
Brugada syndrome 9  
Brunoni Syndrome 
bullous congenital ichthyosiform erythroderma  
Burn-McKeown syndrome  
Buschke-Ollendorff syndrome  
C syndrome  
CADASIL 1  
CADASIL 2  
campomelic dysplasia +   
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  
Camptosynpolydactyly, Complex  
CAPOS Syndrome  
Cardioacrofacial Dysplasia +   
cardiofaciocutaneous syndrome +   
cardiofaciocutaneous syndrome 1  
cardiofaciocutaneous syndrome 2  
cardiofaciocutaneous syndrome 3  
cardiofaciocutaneous syndrome 4  
Cardiofacioneurodevelopmental Syndrome  
Carnevale Hernandez Castillo Syndrome 
Carney complex +   
Carney-Stratakis syndrome  
Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly  
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  
Catatrichy 
Catel Manzke syndrome  
central conducting lymphatic anomaly  
central core disease +   
central precocious puberty 1  
central precocious puberty 2  
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 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  
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 
cherubism +   
childhood onset GLUT1 deficiency syndrome 2  
Chitayat Meunier Hodgkinson Syndrome 
CHOPS 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 5p13 duplication syndrome 
chromosome 5q12 deletion syndrome 
Chromosome Xq28 Duplication Syndrome  
CINCA syndrome  
Clark-Baraitser syndrome  
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
cleft palate, cardiac defects, and intellectual disabillity  
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 +   
Clouston syndrome  
Coffin-Siris syndrome +   
cold-induced sweating syndrome +   
Combined Pituitary Hormone Deficiency, 1  
complex cortical dysplasia with other brain malformations +   
congenital adrenal insufficiency  
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay  
congenital central hypoventilation syndrome +   
congenital contractural arachnodactyly  
congenital diarrhea 6  
Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 
CONGENITAL DISORDER OF DEGLYCOSYLATION 2  
congenital dyserythropoietic anemia type IV  
congenital fibrosis of the extraocular muscles 1  
congenital fibrosis of the extraocular muscles 3A  
congenital fibrosis of the extraocular muscles 3C 
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
congenital limbs-face contractures-hypotonia-developmental delay syndrome  
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 symmetric circumferential skin creases 1  
congenital symmetric circumferential skin creases 2  
congenital vertical talus  
Copper Deficiency, Familial Benign 
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  
Cranioacrofacial Syndrome 
craniofacial-deafness-hand syndrome  
Craniosynostosis, Adelaide Type 
Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 
Cree Mental Retardation Syndrome 
Crouzon syndrome-acanthosis nigricans syndrome  
Crumpled Helices and Small Mouth 
CST3-related cerebral amyloid angiopathy +   
Cubitus Valgus with Impaired Intellectual Development and Unusual Facies 
Culler-Jones syndrome  
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome  
Currarino syndrome  
Cyprus Facial Neuromusculoskeletal Syndrome 
D-2-hydroxyglutaric aciduria 2  
Daneman Davy Mancer Syndrome 
Davis Lafer Syndrome 
De Hauwere syndrome 
Deafness, Congenital Onychodystrophy, Recessive Form 
Deafness-Craniofacial Syndrome 
dehydrated hereditary stomatocytosis 1  
dehydrated hereditary stomatocytosis 2  
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 
delta beta-thalassemia +   
dentinogenesis imperfecta +   
Denys-Drash syndrome  
Der Kaloustian Mcintosh Silver Syndrome 
dermatopathia pigmentosa reticularis  
Dermoodontodysplasia 
developmental and epileptic encephalopathy 11  
developmental and epileptic encephalopathy 13  
developmental and epileptic encephalopathy 14  
developmental and epileptic encephalopathy 17  
developmental and epileptic encephalopathy 19  
developmental and epileptic encephalopathy 24  
developmental and epileptic encephalopathy 26  
developmental and epileptic encephalopathy 27  
developmental and epileptic encephalopathy 30  
developmental and epileptic encephalopathy 31  
developmental and epileptic encephalopathy 32  
developmental and epileptic encephalopathy 33  
developmental and epileptic encephalopathy 4  
developmental and epileptic encephalopathy 41  
developmental and epileptic encephalopathy 42  
developmental and epileptic encephalopathy 43  
developmental and epileptic encephalopathy 45  
developmental and epileptic encephalopathy 46  
developmental and epileptic encephalopathy 47  
developmental and epileptic encephalopathy 5  
developmental and epileptic encephalopathy 54  
developmental and epileptic encephalopathy 56  
developmental and epileptic encephalopathy 57  
developmental and epileptic encephalopathy 58  
developmental and epileptic encephalopathy 59  
developmental and epileptic encephalopathy 62  
developmental and epileptic encephalopathy 65  
developmental and epileptic encephalopathy 66  
developmental and epileptic encephalopathy 67  
developmental and epileptic encephalopathy 69  
developmental and epileptic encephalopathy 7  
developmental and epileptic encephalopathy 70  
developmental and epileptic encephalopathy 72  
developmental and epileptic encephalopathy 73  
developmental and epileptic encephalopathy 74  
developmental and epileptic encephalopathy 78  
developmental and epileptic encephalopathy 79  
developmental and epileptic encephalopathy 87  
developmental and epileptic encephalopathy 91  
developmental and epileptic encephalopathy 92  
developmental and epileptic encephalopathy 93  
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES  
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY  
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  
DICER1 syndrome  
Diets-Jongmans Syndrome  
diffuse cystic renal dysplasia  
DiGeorge syndrome +   
Digitotalar Dysmorphism 
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  
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
distal 10q deletion 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 Arthrogryposis, with Mental Retardation and Characteristic Facies 
distal myopathy 1  
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
Distal Symphalangism +   
dominant optic atrophy plus syndrome  
dominant pericentral pigmentary retinopathy 
DOORS syndrome  
Doyne honeycomb retinal dystrophy  
Dravet syndrome  
Duane-radial ray syndrome  
Dubowitz syndrome  
Dwarfism Stiff Joint Ocular Abnormalities 
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE  
dysplastic nevus syndrome +   
Dystelephalangy 
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  
ectodermal dysplasia and immunodeficiency 2  
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
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 +   
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 periodontal type 1  
Ehlers-Danlos syndrome periodontal type 2  
Eiken syndrome  
epidermolysis bullosa simplex generalized type +   
epidermolysis bullosa simplex localized type +   
epidermolysis bullosa simplex Ogna type  
epidermolysis bullosa simplex with mottled pigmentation  
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  
Extensor Tendons of Fingers, Anomalous Insertion of 
exudative vitreoretinopathy 1  
exudative vitreoretinopathy 3 
exudative vitreoretinopathy 5  
exudative vitreoretinopathy 6  
exudative vitreoretinopathy 7  
FACES Syndrome 
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 
Faciocardiomelic Syndrome 
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 Behcet-like autoinflammatory syndrome  
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 gestational hyperthyroidism  
familial hypocalciuric hypercalcemia +   
familial isolated trichomegaly  
familial juvenile hyperuricemic nephropathy +   
familial male-limited precocious puberty  
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  
familial visceral amyloidosis  
familial woolly hair syndrome +   
Fanconi anemia complementation group R  
Fanconi renotubular syndrome 1  
Fanconi renotubular syndrome 3  
Fanconi renotubular syndrome 4  
Faundes-Banka Syndrome  
Feingold syndrome +   
Feingold Trainer Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES  
fibrochondrogenesis +   
fibrochondrogenesis 2  
fibrodysplasia ossificans progressiva  
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome 
Filippi syndrome  
Floating-Harbor syndrome  
FLOTCH 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  
folliculitis +   
Frasier syndrome  
Frias Syndrome 
Fried Goldberg Mundel Syndrome 
Frints De Smet Fabry Fryns Syndrome 
frontometaphyseal dysplasia 2  
Frontootopalatodigital Osteodysplasia 
Fryns Macrocephaly 
Fryns Syndrome  
Fuhrmann syndrome  
Game Friedman Paradice Syndrome 
geleophysic dysplasia +   
geleophysic dysplasia 2  
geleophysic dysplasia 3  
Giacheti Syndrome 
giant axonal neuropathy 2  
gingival fibromatosis 5  
Gingival Fibromatosis with Distinctive Facies 
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
gnathodiaphyseal dysplasia  
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy  
Goodman Camptodactyly 
Granddad Syndrome 
granular corneal dystrophy +   
Greig cephalopolysyndactyly syndrome  
GRN-related frontotemporal lobar degeneration with TDP43 inclusions  
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
growth hormone insensitivity syndrome with immune dysregulation 2  
Growth Mental Deficiency Syndrome of Myhre  
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Guttmacher syndrome  
Hadziselimovic Syndrome 
Hailey-Hailey disease  
Hairy Palms and Soles 
Hajdu-Cheney syndrome  
hand-foot-genital syndrome  
Haspeslagh Fryns Muelenaere Syndrome 
hawkinsinuria  
Heart-Hand Syndrome, Slovenian Type  
Hecht Scott Syndrome 
Heinz body anemia  
heparin cofactor II deficiency  
hereditary angioedema +   
hereditary breast ovarian cancer syndrome  
hereditary diffuse gastric cancer  
Hereditary Diffuse Leukoencephalopathy with Spheroids 2  
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 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 spastic paraplegia 80  
hereditary spherocytosis type 1  
hereditary spherocytosis type 2  
hereditary spherocytosis type 4  
Hirsutism +   
holoprosencephaly 1  
Holoprosencephaly 10  
holoprosencephaly 11  
holoprosencephaly 2  
holoprosencephaly 3  
holoprosencephaly 4  
holoprosencephaly 5  
holoprosencephaly 7  
holoprosencephaly 9  
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holt-Oram syndrome  
hot water epilepsy 1 
hydrolethalus syndrome +   
hyper IgE recurrent infection syndrome 1  
hyperalphalipoproteinemia 1  
hyperekplexia 1  
hyperekplexia 3  
hyperferritinemia-cataract syndrome  
hypertension and brachydactyly syndrome  
hypertrichosis +   
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  
hypoinsulinemic hypoglycemia with hemihypertrophy  
hypomyelinating leukodystrophy 6  
hypophosphatemic nephrolithiasis/osteoporosis 1  
hypophosphatemic nephrolithiasis/osteoporosis 2  
hypoplastic or aplastic tibia with polydactyly  
Hypotonia, Seizures, and Precocious Puberty 
hypotrichosis +   
hypotrichosis 1  
hypotrichosis 11  
hypotrichosis 12  
hypotrichosis 13  
hypotrichosis 2  
hypotrichosis 3  
hypotrichosis 4  
hypotrichosis 5  
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome  
ichthyosis vulgaris +   
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  
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies  
inclusion body myopathy and brain white matter 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 29  
inflammatory bowel disease 3 
inflammatory bowel disease 30  
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
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 HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC 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 SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS  
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES  
intellectual disability-severe speech delay-mild dysmorphism syndrome  
intracranial berry aneurysm 1 
intracranial berry aneurysm 3 
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  
Jackson-Weiss syndrome  
Jansen's metaphyseal chondrodysplasia  
Johnson Munson Syndrome 
juvenile glaucoma  
juvenile polyposis syndrome +   
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome  
Kahrizi syndrome  
Kaler Garrity Stern Syndrome 
Katsantoni Papadakou Lagoyanni Syndrome 
Kaufman oculocerebrofacial syndrome  
KBG syndrome  
Keppen-Lubinsky Syndrome  
keratosis palmoplantaris striata 1  
keratosis palmoplantaris striata 2  
keratosis palmoplantaris striata 3  
Keutel Syndrome  
Khalifa Graham Syndrome 
King Denborough syndrome  
KINSSHIP syndrome  
Kleefstra syndrome 1  
Kleefstra syndrome 2  
Klippel-Feil syndrome 1  
Klippel-Feil syndrome 3  
Kniest dysplasia  
Kozlowski Rafinski Klicharska Syndrome 
Kozlowski-Krajewska Syndrome 
LADD syndrome  
Larsen syndrome  
Larsen-Like Syndromes +   
lateral meningocele syndrome  
lattice corneal dystrophy +   
Laurin-Sandrow syndrome  
Leber congenital amaurosis 11  
Leber congenital amaurosis 13  
Leber congenital amaurosis with early-onset deafness  
Lenz-Majewski hyperostotic dwarfism  
Leri Pleonosteosis 
leucine-sensitive hypoglycemia of infancy  
Li-Campeau Syndrome  
Li-Fraumeni syndrome +   
Lichtenstein Syndrome 
lissencephaly 1  
lissencephaly 10  
lissencephaly 3 +   
lissencephaly 9 with complex brainstem malformation  
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  
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  
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  
Marsili syndrome  
Martinez Monasterio Pinheiro Syndrome 
Martsolf Syndrome 2  
maturity-onset diabetes of the young +   
McDonough Syndrome 
McPherson Clemens Syndrome 
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  
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 
Metaphyseal Acroscyphodysplasia 
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
Metatarsus Varus, Type I 
metatropic dysplasia  
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, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Miller-Dieker lissencephaly syndrome  
mitochondrial DNA depletion syndrome 12a  
Miura type epiphyseal chondrodysplasia  
monilethrix +   
Mononen-Karnes-Senac syndrome 
Monophalangy of Great Toe 
Morillo-Cucci Passarge Syndrome 
Mowat-Wilson syndrome  
Muckle-Wells syndrome  
Muenke syndrome  
Muller Barth Menger Syndrome 
Mullerian aplasia and hyperandrogenism  
multicentric carpotarsal osteolysis syndrome  
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 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 types of congenital heart defects 6  
myoclonic dystonia 11  
myoclonic dystonia 15 
myoclonic dystonia 26  
myofibrillar myopathy 1  
myofibrillar myopathy 2  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES  
Nabais Sa-de Vries Syndrome, Type 1  
Nabais Sa-de Vries Syndrome, Type 2  
Naegeli-Franceschetti-Jadassohn syndrome  
nail-patella syndrome +   
Naxos disease +   
nemaline myopathy 1  
nemaline myopathy 4  
nemaline myopathy 6  
nephrogenic diabetes insipidus type 2  
nephrotic syndrome type 4  
neurodegeneration with brain iron accumulation 3  
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES  
Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM  
Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES  
neurodevelopmental disorder with involuntary movements  
NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES  
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies  
Neurofaciodigitorenal Syndrome 
neurofibromatosis +   
neurofibromatosis-Noonan syndrome  
neurogenic scapuloperoneal syndrome Kaeser type  
neurohypophyseal diabetes insipidus +   
neuronal ceroid lipofuscinosis 4  
neurooculocardiogenitourinary syndrome  
nevoid basal cell carcinoma syndrome +   
NF1 Microduplication Syndrome 
NFIA-related disorder  
Nicolaides Baraitser Syndrome  
Night Blindness Skeletal Anomalies Unusual Facies 
nonautoimmune hyperthyroidism  
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
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 11  
Noonan syndrome 12  
Noonan syndrome 13  
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  
oculodentodigital dysplasia +   
Oculoskeletodental Syndrome  
Oculotrichodysplasia 
Odontotrichoungual-Digital-Palmar Syndrome 
omodysplasia 2  
optic atrophy 1  
optic atrophy 10  
optic atrophy 12  
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  
orofaciodigital syndrome X 
Oslam syndrome 
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 
Otoonychoperoneal Syndrome 
otopalatodigital syndrome spectrum disorder +   
otospondylomegaepiphyseal dysplasia, autosomal dominant  
ovarian dysgenesis 8  
overhydrated hereditary stomatocytosis  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
pachyonychia congenita +   
Palant Cleft Palate Syndrome 
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 
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  
Perry syndrome  
Pfeiffer Palm Teller Syndrome 
Pfeiffer syndrome  
Pfeiffer Tietze Welte Syndrome 
photosensitive trichothiodystrophy 1  
piebaldism +   
Pierpont Syndrome  
Pierre Robin Sequence with Facial and Digital Anomalies 
pigmented paravenous chorioretinal atrophy  
Pili Annulati 
Pili Multigemini 
Pili Torti +   
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 liver disease +   
popliteal pterygium syndrome +   
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
posterior amorphous corneal dystrophy 
posterior polymorphous corneal dystrophy 1  
posterior polymorphous corneal dystrophy 2  
posterior polymorphous corneal dystrophy 4  
Preaxial Polydactyly II +   
primary ciliary dyskinesia 43  
primary failure of tooth eruption  
primary ovarian insufficiency 11  
primary ovarian insufficiency 16  
primary ovarian insufficiency 3  
primary ovarian insufficiency 5  
primary ovarian insufficiency 6  
primary ovarian insufficiency 7  
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 osseous heteroplasia  
proprotein convertase 1/3 deficiency  
protein C deficiency +   
prothrombin thrombophilia 
proximal symphalangism +   
pseudoachondroplasia  
Pseudofolliculitis Barbae  
Pseudomonilethrix 
Pseudotrisomy 13 Syndrome  
punctate palmoplantar keratoderma type II  
punctate palmoplantar keratoderma type III 
pure hair and nail ectodermal dysplasia +   
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 
retinal arterial tortuosity  
retinal cone dystrophy 1 
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 Dysplasia Patterson Lowry Type 
Richieri Costa Guion-Almeida Syndrome 
Richieri Costa Pereira Syndrome  
ring dermoid of cornea  
Robin Sequence with Distinctive Facial Appearance and Brachydactyly 
Rodrigues Blindness 
Roifman-Chitayat Syndrome  
Romano-Ward Syndrome  
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Rudiger Syndrome 
Ruvalcaba Syndrome 
Saal Bulas Syndrome 
SADDAN  
Saethre-Chotzen syndrome  
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Saul-Wilson syndrome  
Say Field Coldwell syndrome 
scalp-ear-nipple syndrome  
scapuloperoneal spinal muscular atrophy  
Schinzel-Giedion 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 
Schnyder corneal dystrophy  
Schopf-Schulz-Passarge syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
sclerosteosis 2  
Seckel syndrome 1  
Seckel Syndrome 3 
Second Metatarsal-Metacarpal Syndrome 
selective pituitary thyroid hormone resistance  
sepiapterin reductase deficiency  
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects 
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, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
SHORT syndrome  
Shprintzen Omphalocele Syndrome 
Silver-Russell Syndrome 3  
Skin Fragility-Woolly Hair Syndrome  
Snijders Blok-Campeau Syndrome  
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 muscular atrophy with predominant lower extremity +   
Spinocerebellar Ataxia with Dysmorphism 
Split Hand, Split Foot, Nystagmus 
split hand-foot malformation 1  
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 4  
Spondylocamptodactyly 
spondyloepimetaphyseal dysplasia with joint laxity type 2  
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia congenita  
spondyloepiphyseal dysplasia Kimberley type  
spondyloepiphyseal dysplasia Maroteaux type  
spondyloepiphyseal dysplasia Nishimura type  
spondyloepiphyseal dysplasia Stanescu type  
spondyloepiphyseal dysplasia tarda with characteristic facies 
spondylometaphyseal dysplasia corner fracture type  
spondylometaphyseal dysplasia Kozlowski type  
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
spondyloperipheral dysplasia  
Stickler syndrome 1  
Stickler syndrome 2  
stiff skin syndrome  
STING-associated vasculopathy with onset in infancy  
Stoll Alembik Dott Syndrome 
Stormorken syndrome  
superficial mycosis +  
Sweeney-Cox syndrome  
Symphalangism with Multiple Anomalies of Hands and Feet 
Symphalangism, C. S. Lewis Type 
syndactyly type 3  
syndactyly type 4  
syndactyly type 5  
syndactyly type 8  
syndactyly-telecanthus-anogenital and renal malformations syndrome  
syndromic microphthalmia 3  
syndromic microphthalmia 5  
syndromic microphthalmia 6  
syndromic microphthalmia 8  
syndromic X-linked intellectual disability Turner type  
Synpolydactyly 2  
Synpolydactyly with Foot Anomalies 
Tabatznik Syndrome 
Talipes +   
Talonavicular Coalition 
Tarsal Coalition 
tarsal-carpal coalition syndrome +   
Tatton-Brown-Rahman syndrome  
Teebi hypertelorism syndrome +   
Teebi hypertelorism syndrome 1  
Teebi Kaurah Syndrome 
Tel Hashomer Camptodactyly Syndrome 
terminal osseous dysplasia  
Thakker Donnai Syndrome 
Thiel-Behnke corneal dystrophy  
Thomas Jewett Raines Syndrome 
thrombophilia due to activated protein C resistance  
thrombophilia due to HRG deficiency  
thrombophilia due to thrombin defect  
tibial muscular dystrophy  
Tietz syndrome  
Timothy syndrome  
tinea capitis +  
Tollner Horst Manzke 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 +   
transthyretin amyloidosis  
Treacher Collins syndrome +   
Tricho-Dento-Osseous Syndrome 1 
trichodontoosseous syndrome  
Trichodysplasia-Xeroderma 
trichohepatoenteric syndrome +   
Trichohepatoneurodevelopmental Syndrome  
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type II  
trichorhinophalangeal syndrome type III  
A syndrome 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 +   
tubular aggregate myopathy 1  
tubular aggregate myopathy 2  
Tukel syndrome 
Turnpenny-Fry Syndrome  
type 1 diabetes mellitus 2  
Ullrich congenital muscular dystrophy +   
Ulnar Hypoplasia Lobster Claw Deformity of Feet 
ulnar-mammary syndrome  
Uncombable Hair Syndrome +   
Unilateral Adactylia 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
urofacial syndrome +   
Uruguay faciocardiomusculoskeletal syndrome  
uveal coloboma-cleft lip and palate-intellectual disability  
Van Maldergem syndrome +   
variant ABeta2M amyloidosis 
vascular type Ehlers-Danlos syndrome +   
Ventricular Extrasystoles Perodactyly Robin Sequence 
Verheij Syndrome  
vertebral anomalies and variable endocrine and T-cell dysfunction  
VERVERI-BRADY SYNDROME  
Vohwinkel syndrome  
Waardenburg's syndrome +   
Walbaum Titran Durieux Crepin Syndrome 
warfarin sensitivity +   
Weaver syndrome  
WEISS-KRUSZKA SYNDROME  
Weyers acrofacial dysostosis  
Weyers Ulnar Ray/Oligodactyly Syndrome 
WHIM syndrome  
White Forelock with Malformations 
Williams-Beuren syndrome +   
Winter Harding Hyde Syndrome 
Worth syndrome  
Zechi-Ceide Syndrome 
Zimmerman Laband Syndrome +   

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

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