DOPATREE
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DOPATREE
CONDITIONS
CONDITIONS / TYPES BY COMMON MEDICAL GROUPINGS
RARE DISEASES-ALL (SYNDROMES, GENETIC CONDITIONS, ORPHAN DRUG DESIGNATIONS, INHERITED, SYNDROMES, MULTISYSTEM, INBORN ERRORS, CHROMOSOMAL, MULTIPLE DISORDERS, MULTI-SYSTEMS, ULTRA-RARE)
RARE DISEASES / LISTINGS-T
Parents
RARE DISEASES-ALL (SYNDROMES, GENETIC CONDITIONS, ORPHAN DRUG DESIGNATIONS, INHERITED, SYNDROMES, MULTISYSTEM, INBORN ERRORS, CHROMOSOMAL, MULTIPLE DISORDERS, MULTI-SYSTEMS, ULTRA-RARE)
Children
T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY (ALYMPHOID CYSTIC THYMIC DYSGENESIS, PIGNATA GUARINO SYNDROME, WINGED HELIX DEFICIENCY
TALONAVICULAR COALITION
TANG HSI RYU SYNDROME (SYNDROME OF POLYNEUROPATHY, SKIN HYPERPIGMENTATION, OEDEMA AND HEPATOSPLENOMEGALY)
TANGIER DISEASE (HIGH DENSITY LIPOPROTEIN DEFICIENCY TYPE 1, HDLDT1, HIGH DENSITY LIPOPROTEIN DEFICIENCY TANGIER TYPE, FAMILIAL ALPHA-LIPOPROTEIN DEFICIENCY, HDL LIPOPROTEIN DEFICIENCY DISEASE)
TANGO2-RELATED METABOLIC ENCEPHALOPATHY AND ARRHYTHMIAS
TAR SYNDROME (THROMBOCYTOPENIA ABSENT RADIUS SYNDROME, THROMBOCYTOPENIA ABSENT RADII)
TARP SYNDROME (TALIPES EQUINOVARUS, ATRIAL SEPTAL DEFECT, ROBIN SEQUENCE, AND PERSISTENT LEFT SUPERIOR VENA CAVA)
TARSAL CARPAL COALITION SYNDROME (TCC SYNDROME, POSTERIOR TIBIAL NEURALGIA)
TAURODONTIA, ABSENT TEETH, SPARSE HAIR SYNDROME
TAURODONTISM
TEEBI SHALTOUT SYNDROME (CRANIOFACIAL ANOMALIES, ABNORMAL HAIR, CAMPTODACTYLY, AND CAUDAL APPENDAGE)
TEL HASHOMER CAMPTODACTYLY SYNDROME (CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMAL PALMAR CREASES)
TELFER SUGAR JAEGER SYNDROME (PIEBALD TRAIT NEUROLOGIC DEFECTS, WHITE FORELOCK AND LEUKODERMA WITH NEUROLOGICAL IMPAIRMENT)
TEMPLE SYNDROME
TEMPLE-BARAITSER SYNDROME (TMBTS, SEVERE INTELLECTUAL DISABILITY-APLASIA/HYPOPLASIA OF THUMB AND HALLUX SYNDROME)
TEMTAMY SYNDROME (DYSMORPHISM, CORPUS CALLOSUM AGENESIS AND COLOBOMAS, CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA ABSENT CORPUS CALLOSUM AND AORTIC DILATATION)
TERMINAL OSSEOUS DYSPLASIA (TOD, DCD, DIGITOCUTANEOUS DYSPLASIA, TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECT SYNDROME, TODPD)
TESTOTOXICOSIS (FAMILIAL MALE-LIMITED PRECOCIOUS PUBERTY, FMPP, GIPP, GONADOTROPHIN-INDEPENDENT PRECOCIOUS PUBERTY, PRECOCIOUS PSEUDOPUBERTY, PUBERTAS PRAECOX)
TETHERED CORD SYNDROME (OCCULT SPINAL DYSRAPHISM SEQUENCE, TETHERED SPINAL CORD SYNDROME, SEGMENTAL VERTEBRAL ANOMALIES)
TETRA-AMELIA SYNDROME (AUTOSOMAL RECESSIVE TETRAAMELIA)
TETRAAMELIA WITH PULMONARY HYPOPLASIA (SYNDROME OF TETRAAMELIA WITH PULMONARY HYPOPLASIA, ABSENCE OF UPPER AND LOWER LIMBS WITH PULMONARY HYPOPLASIA)
TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME (ZIMMER TAUB SOVA SYNDROME, ZIMMER PHOCOMELIA)
TETRAMELIC MONODACTYLY (SOMMER HINES SYNDROME, TETRAMELIC MONODACTYLY WITH AUTOSOMAL DOMINANT INHERITANCE)
TETRAPLOIDY
TETRASOMY 21 (ISOCHROMOSOME 21)
TETRASOMY X (48 XXXX)
THAI SYMPHALANGISM SYNDROME
THAKKER-DONNAI SYNDROME (DYSMORPHISM MULTIPLE STRUCTURAL ANOMALIES)
THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME (TRMA, ROGERS SYNDROME)
THIEMANN DISEASE (OSTEOARTHROPATHY OF FINGERS FAMILIAL, THIEMANN EPIPHYSEAL DISEASE)
THIOPURINE S METHYLTRANFERASE DEFICIENCY (TPMT DEFICIENCY, HIOPURINE METHYLTRANSFERASE DEFICIENCY, 6-MERCAPTOPURINE SENSITIVITY)
THORACIC DYSPLASIA HYDROCEPHALUS SYNDROME
THORACO ABDOMINAL ENTERIC DUPLICATION
THORACOLARYNGOPELVIC DYSPLASIA (TLPD, BARNES SYNDROME)
THROMBOCYTOPATHY ASPLENIA MIOSIS (STORMORKEN SYNDROME, STORMORKEN-SJAASTAD-LANGSLET SYNDROME)
THROMBOCYTOPENIA ABSENT RADIUS SYNDROME (RADIAL APLASIA-AMEGAKARYOCYTIC THROMBOCYTOPENIA, RADIAL APLASIA-THROMBOCYTOPENIA SYNDROME, TAR SYNDROME)
THUMB DEFORMITY (THUMB ABSENT OR HYPOPLASTIC, THUMB HYPOPLASTIC)
THYMIC-RENAL-ANAL-LUNG DYSPLASIA (SYNDROME OF UNILOBED OR ABSENT THYMUS, RENAL AND URETER AGENESIS / DYSGENESIS, AND INTRAUTERINE GROWTH RETARDATION (IUGR))
THYROID DYSGENESIS (ECTOPIC THYROID, THYROID HYPOPLASIA, THYROID AGENESIS)
TIBIA ABSENT POLYDACTYLY ARACHNOID CYST SYNDROME
TIETZ SYNDROME (TIETZ ALBINISM-DEAFNESS SYNDROME, ALBINISM AND DEAFNESS OF TIETZ)
TIGHT SKIN CONTRACTURE SYNDROME (HYPERKERATOSIS-CONTRACTURE SYNDROME, RESTRICTIVE DERMOPATHY LETHAL)
TIGLIC ACIDEMIA (DISORDER OF ISOLEUCINE METABOLISM)
TIMOTHY SYNDROME (LONG QT SYNDROME 8, LQT8, LONG QT SYNDROME WITH SYNDACTYLY)
TMEM165-CDG (CDG-IIK, CDG SYNDROME TYPE IIK, CDG2K, CONGENITAL DISORDER OF GLYCOSYLATION TYPE IIK, CARBOHYDRATE DEFICIENT GLYCOPROTEIN SYNDROME TYPE IIK, CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2K)
TOLLNER HORST MANZKE SYNDROME (HEPTACARPO-OCTATARSO-DACTYLY COMBINED WITH MULTIPLE MALFORMATION)
TOLOSA HUNT SYNDROME (THS, PAINFUL OPHTHALMOPLEGIA)
TONOKI SYNDROME (SHORT STATURE, BRACHYDACTYLY, NAIL DYSPLASIA AND MENTAL RETARDATION)
TORIELLO-CAREY SYNDROME (CORPUS CALLOSUM AGENESIS FACIAL ANOMALIES ROBIN SEQUENCE)
TORTICOLLIS KELOIDS CRYPTORCHIDISM RENAL DYSPLASIA SYNDROME (TKCR SYNDROME, GOEMINNE SYNDROME)
TOWNES-BROCKS SYNDROME (TBS, DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND HYPOPLASTIC THUMBS, IMPERFORATE ANUS WITH HAND, FOOT AND EAR ANOMALIES)
TRACHEAL AGENESIS (CONGENITAL TRACHEAL AGENESIS)
TRACHEOBRONCHOMALACIA (TBM)
TRACHEOBRONCHOPATHIA OSTEOPLASTICA (TRACHEOBRONCHOPATHIA OSTEOCHONDROPLASTICA, CARTILAGINOUS OR BONY PROJECTIONS INTO THE TRACHEOBRONCHIAL LUMEN, TRACHEOPATHIA OSTEOPLASTICA)
TRANEBJAERG SVEJGAARD SYNDROME (X-LINKED MENTAL RETARDATION ASSOCIATED WITH PSORIASIS, MENTAL RETARDATION X-LINKED TRANEBJAERG TYPE SEIZURES AND PSORIASIS)
TRANSALDOLASE DEFICIENCY
TRANSCOBALAMIN 1 DEFICIENCY
TREACHER COLLINS SYNDROME (TCS, TREACHER COLLINS-FRANCESCHETTI SYNDROME, MANDIBULOFACIAL DYSOSTOSIS, FRANCESCHETTI-ZWALEN-KLEIN SYNDROME)
TREHALASE DEFICIENCY (TREHALOSE INTOLERANCE)
TRICHO-DENTAL SYNDROME (TRICHODENTAL DYSPLASIA, TRICHO-DENTAL SYNDROME)
TRICHO-DENTO-OSSEOUS SYNDROME (TDO SYNDROME)
TRICHOFOLLICULOMA
TRICHOHEPATOENTERIC SYNDROME (TRICHO-HEPATO-ENTERIC SYNDROME)
TRICHORHINOPHALANGEAL SYNDROME TYPE 1 (TRPS1, GIEDION SYNDROME)
TRICHORHINOPHALANGEAL SYNDROME TYPE 2 (TRPS2, LANGER GIEDION SYNDROME, LGS, LANGER-GIEDION, CHROMSOME 8Q24 DELETION, MONOSOMY, REGION, LGCR)
TRICHORHINOPHALANGEAL SYNDROME TYPE 3 (TRPS 3, SUGIO-KAJII SYNDROME)
TRICHOSTASIS SPINULOSA (TS)
TRICHOTHIODYSTROPHY (TTD, IBIDS SYNDROME, PIBIDS SYNDROME, TAY SYNDROME)
TRIGONOBRACHYCEPHALY, BULBOUS BIFID NOSE, MICROGNATHIA, AND ABNORMALITIES OF THE HANDS AND FEET (TRIGONOCEPHALY - BIFID NOSE - ACRAL ANOMALIES)
TRIOSEPHOSPHATE ISOMERASE DEFICIENCY (TPI DEFICIENCY, TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY)
TRIPHALANGEAL THUMBS BRACHYECTRODACTYLY SYNDROME (TRIPHALANGEAL THUMB AND BRACHY-ECTRODACTYLY SYNDROME)
TRIPLE A SYNDROME (ACHALASIA ADDISONIANISM ALACRIMIA SYNDROME, AAA SYNDROME, ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER, ADDISONIAN ACHALASIA SYNDROME, ALLGROVE SYNDROME)
TRIPLOIDY (TRIPLOID SYNDROME, TRIPLOIDY SYNDROME)
TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME (HECHT SYNDROME, DUTCH-KENTUCKY SYNDROME, DISTAL ARTHROGRYPOSIS TYPE 7)
TRISOMY 13 (PATAU SYNDROME, D TRISOMY, BARTHOLIN-PATAU SYNDROME)
TRISOMY 17 MOSAICISM (CHROMOSOME 17 DUPLICATION, TRISOMY 17, CHROMOSOME 17 TRISOMY)
TRISOMY 18 (CHROMOSOME 18 TRISOMY, EDWARDS SYNDROME)
TRISOMY 2 MOSAICISM (MOSAIC TRISOMY 2)
TROCHLEAR DYSPLASIA (FEMORAL TROCHLEAR DYSPLASIA)
TROYER SYNDROME (SPG20, SPASTIC PARAPARESIS, CHILDHOOD-ONSET, WITH DISTAL MUSCLE WASTING, SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, TROYER TYPE)
TRYPTOPHANURIA WITH DWARFISM
TUBULOINTERSTITIAL NEPHRITIS AND UVEITIS (TINU, TINU SYNDROME)
TUCKER SYNDROME (PTOSIS VOCAL CORD PARALYSIS)
TUFTED ANGIOMA
TUFTING ENTEROPATHY (CONGENITAL ENTEROPATHY, INTESTINAL EPITHELIAL DYSPLASIA, IED)
TUKEL SYNDROME (CONGENITAL EXTRAOCULAR MUSCLE FIBROSIS WITH ULNAR HAND ANOMALIES, CFEOM-U)
TUMEFACTIVE MULTIPLE SCLEROSIS (BALO'S CONCENTRIC SCLEROSIS, MS, DISEASE, CONCENTRIC SCLEROSIS, ENCEPHALITIS PERIAXIALIS CONCENTRICA, LEUKOENCEPHALITIS PERIAXIALIS CONCENTRIC, DIFFUSE CEREBRAL)
TURCOT SYNDROME (BRAIN TUMOR-POLYPOSIS SYNDROME, GLIOMA-POLYPOSIS SYNDROME)
TURNER SYNDROME (TS, MONOSOMY X, XO SYNDROME, ULLRICH-TURNER SYNDROME, GONADAL DYSGENESIS, 45, X SYNDROME, BONNEVIE-ULLRICH SYNDROME)
TWENTY-NAIL DYSTROPHY (TRACHONYCHIA, SANDPAPER NAILS)
TWIN TO TWIN TRANSFUSION SYNDROME (TTTS, FETO-FETAL TRANSFUSION SYNDROME, FFTS)
TYLOSIS WITH ESOPHAGEAL CANCER (TOC, HOWEL-EVANS SYNDROME)
TYROSINE HYDROXYLASE DEFICIENCY (PARKINSONISM, INFANTILE, AUTOSOMAL RECESSIVE, DYSTONIA, DOPA RESPONSIVE, AUTOSOMAL RECESSIVE, DOPA RESPONSIVE DYSTONIA, AUTOSOMAL RECESSIVE)