TaoMedAI/RareMedData huggingface dataset:
ORPHA:293864: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
ORPHA:293888: Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
ORPHA:293888: ALVC
ORPHA:293888: Arrhythmogenic cardiomyopathy dominant-left variant
ORPHA:293888: Arrhythmogenic cardiomyopathy with left ventricular involvement
ORPHA:293888: Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form
ORPHA:293899: Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
ORPHA:293899: Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
ORPHA:293910: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
ORPHA:293910: Familial isolated arrhytmogenic ventricular dysplasia, right dominant form
ORPHA:293925: Lethal occipital encephalocele-skeletal dysplasia syndrome
ORPHA:293936: EDICT syndrome
ORPHA:293936: Autosomal dominant keratoconus with early-onset anterior polar cataracts
ORPHA:293936: Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome
ORPHA:293936: Familial keratoconus with cataract
ORPHA:293936: KTCNCT
ORPHA:293939: Distal Xq28 microduplication syndrome
ORPHA:293939: Distal dup(X)q(28)
ORPHA:293939: Distal trisomy Xq28
ORPHA:293939: Int22h1/Int22h2 mediated-Xq28 microduplication syndrome
ORPHA:293948: 1p21.3 microdeletion syndrome
ORPHA:293948: Del(1)(p21.3)
ORPHA:293948: Monosomy 1p21.3
ORPHA:293955: Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
ORPHA:293958: Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
ORPHA:293958: HPPD
ORPHA:293958: Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome
ORPHA:293964: Hypoinsulinemic hypoglycemia and body hemihypertrophy
ORPHA:293967: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
ORPHA:293967: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome
ORPHA:293978: Deficiency in anterior pituitary function-variable immunodeficiency syndrome
ORPHA:293978: DAVID syndrome
ORPHA:293987: Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
ORPHA:293987: ROHHAD
ORPHA:293987: ROHHADNET
ORPHA:293987: Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome
ORPHA:294: Fetal cytomegalovirus syndrome
ORPHA:294: Antenatal CMV infection
ORPHA:294: Antenatal cytomegalovirus infection
ORPHA:294: Mother-to-child transmission of cytomegalovirus syndrome
ORPHA:2940: Porencephaly
ORPHA:294016: Microcephaly-capillary malformation syndrome
ORPHA:294016: MIC-CAP syndrome
ORPHA:294016: MIC-CM syndrome
ORPHA:294016: Microcephaly-cutaneous capillary malformation syndrome
ORPHA:294023: Neonatal inflammatory skin and bowel disease
ORPHA:294026: Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
ORPHA:294026: Syndactyly-nystagmus syndrome due to dup(2)(q31.1)
ORPHA:294026: Syndactyly-nystagmus syndrome due to trisomy 2q31.1
ORPHA:294057: Rare nevus
ORPHA:294060: Multiple pterygium syndrome
ORPHA:2941: Porencephaly-cerebellar hypoplasia-internal malformations syndrome
ORPHA:2941: Bonnemann-Meinecke syndrome
ORPHA:2942: Postpoliomyelitis syndrome
ORPHA:2942: Postpolio sequelae
ORPHA:2942: Postpolio syndrome
ORPHA:2942: Postpoliomyelitic syndrome
ORPHA:2942: Postpoliomyelitis sequelae
ORPHA:294415: Renal-hepatic-pancreatic dysplasia
ORPHA:294415: Ivemark II syndrome
ORPHA:294415: Renohepaticopancreatic dysplasia
ORPHA:294422: Chronic intestinal failure
ORPHA:294422: CIF
ORPHA:2946: Brachydactyly-long thumb syndrome
ORPHA:2946: Brachydactyly, long thumb type
ORPHA:2947: Triphalangeal thumbs-brachyectrodactyly syndrome
ORPHA:2947: Carnevale-Hernández-del Castillo-Torres syndrome
ORPHA:294925: Non-syndromic amelia
ORPHA:294927: Non-syndromic intercalary limb defects
ORPHA:294927: Non-syndromic intercalary meromelia
ORPHA:294944: Congenital deformities of limbs
ORPHA:294947: Congenital deformities of fingers
ORPHA:294949: Non-syndromic joint formation defects
ORPHA:294951: Congenital joint dislocations
ORPHA:294953: Non-syndromic limb overgrowth
ORPHA:294955: Syndrome with limb reduction defects
ORPHA:294957: Dysostosis with combined reduction defects of upper and lower limbs
ORPHA:294959: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
ORPHA:294963: Popliteal pterygium syndrome
ORPHA:294965: Lethal congenital contracture syndrome
ORPHA:294965: LCCS
ORPHA:294967: Isolated amelia of upper limb
ORPHA:294967: Isolated congenital absence of upper limb
ORPHA:294969: Isolated amelia of lower limb
ORPHA:294969: Isolated congenital absence of lower limb
ORPHA:294971: Isolated tetra-amelia
ORPHA:294971: Isolated total amelia
ORPHA:294973: Isolated humeral agenesis/hypoplasia
ORPHA:294973: Isolated congenital absence of humerus
ORPHA:294973: Isolated congenital humeral deficiency
ORPHA:294973: Isolated congenital hypoplasia of humerus
ORPHA:294973: Isolated humeral intercalary meromelia
ORPHA:294975: Isolated absence of upper arm and forearm with hand present
ORPHA:294975: Isolated congenital humero-radio-ulnar intercalary transverse meromelia
ORPHA:294977: Isolated absence of thigh and lower leg with foot present
ORPHA:294977: Isolated congenital femoro-tibio-fibular intercalary transverse meromelia
ORPHA:294979: Isolated absence of both forearm and hand
ORPHA:294979: Isolated congenital radio-ulnar terminal transverse meromelia
ORPHA:294981: Isolated absence of both lower leg and foot
ORPHA:294981: Isolated congenital tibiofibular terminal transverse meromelia
ORPHA:294983: Isolated acheiria
ORPHA:294983: Isolated congenital absence of hand
ORPHA:294986: Isolated apodia
ORPHA:294986: Isolated congenital absence of foot
ORPHA:294988: Isolated hypoplasia of thumb
ORPHA:294988: Isolated congenital absence/hypoplasia of thumb
ORPHA:294988: Isolated congenital thumb hypodactyly
ORPHA:294988: Isolated congenital thumb oligodactyly
ORPHA:295: Fetal parvovirus syndrome
ORPHA:295: Mother-to-child transmission of parvovirus syndrome
ORPHA:295: Parvovirus antenatal infection
ORPHA:295000: Amniotic band syndrome
ORPHA:295000: ABS
ORPHA:295000: Amniotic band sequence
ORPHA:295000: Congenital constriction ring syndrome
ORPHA:295000: Congenital ring constrictions
ORPHA:295000: Constriction band syndrome
ORPHA:295000: Streeter dysplasia
ORPHA:295002: Isolated hyperphalangy
ORPHA:295002: Isolated congenital supernumerary phalanges
ORPHA:295002: Supernumerary phalanx
ORPHA:295004: Central polydactyly
ORPHA:295004: Mesoaxial polydactyly
ORPHA:295012: Syndactyly type 6
ORPHA:295012: Mitten hand
ORPHA:295012: Syndactyly, mitten type
ORPHA:295012: Unilateral syndactyly of digits 2-5
ORPHA:295014: Familial isolated clinodactyly of fingers
ORPHA:295016: Camptodactyly of fingers
ORPHA:295018: Congenital pseudoarthrosis of the tibia
ORPHA:295018: Congenital pseudarthrosis of the tibia
ORPHA:295020: Congenital pseudoarthrosis of the femur
ORPHA:295020: Congenital pseudarthrosis of the femur
ORPHA:295022: Congenital pseudoarthrosis of the fibula
ORPHA:295022: Congenital pseudarthrosis of the fibula
ORPHA:295024: Congenital pseudoarthrosis of the radius
ORPHA:295024: Congenital pseudarthrosis of the radius
ORPHA:295026: Congenital pseudoarthrosis of the ulna
ORPHA:295026: Congenital pseudarthrosis of the ulna
ORPHA:295028: Isolated tibio-fibular synostosis
ORPHA:295028: Isolated congenital tibiofibular fusion
ORPHA:295030: True congenital shoulder dislocation
ORPHA:295032: Isolated congenital radial head dislocation
ORPHA:295032: Isolated congenital elbow dislocation
ORPHA:295034: Congenital knee dislocation
ORPHA:295036: Congenital patella dislocation
ORPHA:295044: Macrodactyly of fingers
ORPHA:295044: Macrodactyly of hand
ORPHA:295047: Macrodactyly of toes
ORPHA:295047: Macrodactyly of foot
ORPHA:295049: Upper limb hypertrophy
ORPHA:295051: Lower limb hypertrophy
ORPHA:2951: Absent thumb-short stature-immunodeficiency syndrome
ORPHA:295187: Zygodactyly type 1
ORPHA:295187: SD1, Weidenreich type
ORPHA:295187: SD1a
ORPHA:295187: Syndactyly type 1, Weidenreich type
ORPHA:295187: Syndactyly type 1a
ORPHA:295187: Zygodactyly, Weidenreich type
ORPHA:295189: Zygodactyly type 2
ORPHA:295189: SD1, Lueken type
ORPHA:295189: SD1b
ORPHA:295189: Syndactyly type 1, Lueken type
ORPHA:295189: Syndactyly type 1b
ORPHA:295189: Zygodactyly, Lueken type
ORPHA:295191: Zygodactyly type 3
ORPHA:295191: SD1, Montagu type
ORPHA:295191: SD1c
ORPHA:295191: Syndactyly type 1, Montagu type
ORPHA:295191: Syndactyly type 1c
ORPHA:295191: Zygodactyly, Montagu type
ORPHA:295193: Zygodactyly type 4
ORPHA:295193: SD1, Castilla type
ORPHA:295193: SD1d
ORPHA:295193: Syndactyly type 1, Castilla type
ORPHA:295193: Syndactyly type 1d
ORPHA:295193: Zygodactyly, Castilla type
ORPHA:295195: Synpolydactyly type 1
ORPHA:295195: SD2, Vordingborg type
ORPHA:295195: SD2a
ORPHA:295195: SPD, Vordingborg type
ORPHA:295195: SPD1
ORPHA:295195: Synpolydactyly, Vordingborg type
ORPHA:295197: Synpolydactyly type 2
ORPHA:295197: SD2, Debeer type
ORPHA:295197: SD2b
ORPHA:295197: SPD, Debeer type
ORPHA:295197: SPD2
ORPHA:295197: Synpolydactyly, Debeer type
ORPHA:295199: Synpolydactyly type 3
ORPHA:295199: SD2, Malik type
ORPHA:295199: SD2c
ORPHA:295199: SPD, Malik type
ORPHA:295199: SPD3
ORPHA:295199: Synpolydactyly, Malik type
ORPHA:2952: Adducted thumbs-arthrogryposis syndrome, Christian type
ORPHA:295201: Congenital vertical talus, unilateral
ORPHA:295203: Congenital vertical talus, bilateral
ORPHA:295225: Congenital elbow dislocation, unilateral
ORPHA:295227: Congenital elbow dislocation, bilateral
ORPHA:295229: Congenital genu recurvatum
ORPHA:295232: Congenital genu flexum
ORPHA:295239: Macrodactyly of fingers, unilateral
ORPHA:295239: Macrodactyly of hand, unilateral
ORPHA:295241: Macrodactyly of fingers, bilateral
ORPHA:295241: Macrodactyly of hand, bilateral
ORPHA:295243: Macrodactyly of toes, unilateral
ORPHA:295243: Macrodactyly of foot, unilateral
ORPHA:295245: Macrodactyly of toes, bilateral
ORPHA:295245: Macrodactyly of foot, bilateral
ORPHA:2953: Musculocontractural Ehlers-Danlos syndrome
ORPHA:2953: Adducted thumb-clubfoot syndrome
ORPHA:2953: Distal arthrogryposis with peculiar facies and hydronephrosis
ORPHA:2953: Dündar syndrome
ORPHA:2953: Ehlers-Danlos syndrome, Kosho type
ORPHA:2953: Musculocontractural EDS
ORPHA:2953: mcEDS
ORPHA:2956: Acrodysplasia scoliosis
ORPHA:2956: Brachydactyly-scoliosis-carpal fusion syndrome
ORPHA:2956: Prata-Liberal-Goncalves syndrome
ORPHA:2957: Guttmacher syndrome
ORPHA:2957: Preaxial deficiency-postaxial polydactyly-hypospadias syndrome
ORPHA:2958: X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
ORPHA:2958: Prieto-Badia-Mulas syndrome
ORPHA:2959: Progeria-short stature-pigmented nevi syndrome
ORPHA:2959: Mulvihill-Smith syndrome
ORPHA:296: Ollier disease
ORPHA:296: Enchondromatosis Spranger type I
ORPHA:296: Multiple Enchondromatosis type I
ORPHA:296: Multiple Enchondromatosis, Ollier type
ORPHA:2962: De Barsy syndrome
ORPHA:2962: Cutis laxa-corneal clouding-intellectual disability syndrome
ORPHA:2962: Progeroid syndrome, De Barsy type
ORPHA:2963: Progeroid syndrome, Petty type
ORPHA:2963: Fontaine progeroid syndrome
ORPHA:2963: Petty syndrome
ORPHA:2963: Petty-Laxova-Wiedemann syndrome
ORPHA:2964: Autosomal dominant prognathism
ORPHA:2965: Prolactinoma
ORPHA:2965: Lactotroph adenoma
ORPHA:2965: PRL-secreting pituitary adenoma
ORPHA:2965: PRLoma
ORPHA:2965: Pituitary lactotrophic adenoma
ORPHA:2965: Prolactin-secreting pituitary adenoma
ORPHA:2966: Properdin deficiency
ORPHA:2967: Transcobalamin I deficiency
ORPHA:2967: Haptocorrin deficiency
ORPHA:2967: TCI deficiency
ORPHA:2967: Transcobalamin-1 deficiency
ORPHA:2968: Leukocyte adhesion deficiency
ORPHA:2968: LAD
ORPHA:2969: Proteus-like syndrome
ORPHA:297: Tick-borne encephalitis
ORPHA:297: TBE
ORPHA:2970: Prune belly syndrome
ORPHA:2970: Abdominal muscle deficiency syndrome
ORPHA:2970: Eagle-Barret syndrome
ORPHA:2970: Obrinsky syndrome
ORPHA:2970: Triad syndrome
ORPHA:2971: Peroxisomal acyl-CoA oxidase deficiency
ORPHA:2971: Pseudo-NALD
ORPHA:2971: Pseudo-neonatal adrenoleukodystrophy
ORPHA:2971: Pseudoadrenoleukodystrophy
ORPHA:2972: Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
ORPHA:2972: Stoelinga-de Koomen-Davis syndrome
ORPHA:2973: 46,XX difference of sex development-anorectal anomalies syndrome
ORPHA:2973: 46,XX disorder of sex development-anorectal anomalies syndrome
ORPHA:2975: 46,XX difference of sex development-skeletal anomalies syndrome
ORPHA:2975: 46,XX disorder of sex development-skeletal anomalies syndrome
ORPHA:2976: Pseudoleprechaunism syndrome, Patterson type
ORPHA:2976: Patterson pseudoleprechaunism syndrome
ORPHA:2976: Patterson syndrome
ORPHA:2978: Chronic intestinal pseudoobstruction
ORPHA:2978: CIPO
ORPHA:298: Mitochondrial neurogastrointestinal encephalomyopathy
ORPHA:298: MNGIE
ORPHA:2980: Acrootoocular syndrome
ORPHA:2980: Pseudopapilledema-blepharophimosis-hand anomalies syndrome
ORPHA:2982: 46,XX difference of sex development
ORPHA:2982: 46,XX DSD
ORPHA:2982: 46,XX disorder of sex development
ORPHA:29822: Spontaneous periodic hypothermia
ORPHA:29822: Episodic spontaneous hypothermia
ORPHA:29822: Shapiro syndrome
ORPHA:2983: Difference of sex development-intellectual disability syndrome
ORPHA:2983: Disorder of sex development-intellectual disability syndrome
ORPHA:2983: Verloes-Gillerot-Fryns syndrome
ORPHA:2985: Pseudoprogeria syndrome
ORPHA:2985: Absent eyebrows and eyelashes-intellectual disability syndrome
ORPHA:2985: Hal-Berg-Rudolph syndrome
ORPHA:298644: Disorder of thiamine metabolism and transport
ORPHA:2987: Antecubital pterygium syndrome
ORPHA:2988: Pterygium colli-intellectual disability-digital anomalies syndrome
ORPHA:2988: Khalifa-Graham syndrome
ORPHA:2989: Familial pterygium of the conjunctiva
ORPHA:2990: Autosomal recessive multiple pterygium syndrome
ORPHA:2990: Autosomal recessive non-lethal multiple pterygium syndrome
ORPHA:2990: EVMPS
ORPHA:2990: Escobar syndrome
ORPHA:2990: Escobar variant multiple pterygium syndrome
ORPHA:2994: Short stature-craniofacial anomalies-genital hypoplasia syndrome
ORPHA:2994: Haspeslagh-Fryns-Muelenaere syndrome
ORPHA:2995: Baraitser-Winter cerebrofrontofacial syndrome
ORPHA:2997: Ptosis-vocal cord paralysis syndrome
ORPHA:2997: Tucker syndrome
ORPHA:2999: Ptosis-strabismus-ectopic pupils syndrome
ORPHA:2999: McPherson-Hall syndrome
ORPHA:30: Hereditary orotic aciduria
ORPHA:30: Orotidylic decarboxylase deficiency
ORPHA:30: Uridine monophosphate synthetase deficiency
ORPHA:300: Bifunctional enzyme deficiency
ORPHA:3000: Familial peripheral male-limited precocious puberty
ORPHA:3000: FMPP
ORPHA:3000: Familial gonadotropin-independent male-limited sexual precocity
ORPHA:3000: Male-limited precocious puberty
ORPHA:3000: Testotoxicosis
ORPHA:300179: Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
ORPHA:300179: Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness
ORPHA:300179: Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss
ORPHA:300179: FKBP14-related EDS
ORPHA:300179: FKBP22-deficient EDS
ORPHA:300179: Kyphoscoliotic EDS due to FKBP22 deficiency
ORPHA:300179: kEDS-FKBP14
ORPHA:3002: Immune thrombocytopenia
ORPHA:3002: ITP
ORPHA:3002: Immune thrombocytopenic purpura
ORPHA:300284: Connective tissue disorder due to lysyl hydroxylase-3 deficiency
ORPHA:300284: Bone fragility-contractures-arterial rupture-deafness syndrome
ORPHA:300284: Bone fragility-contractures-arterial rupture-hearing loss syndrome
ORPHA:300284: Connective tissue disorder due to LH3 deficiency
ORPHA:300293: Transient infantile hypertriglyceridemia and hepatosteatosis
ORPHA:300293: Transient infantile hypertriglyceridemia and fatty liver
ORPHA:300298: Severe congenital hypochromic anemia with ringed sideroblasts
ORPHA:300298: Severe congenital hypochromic sideroblastic anemia
ORPHA:3003: Pyknoachondrogenesis
ORPHA:3003: Camera syndrome
ORPHA:300305: 11p15.4 microduplication syndrome
ORPHA:300305: Dup(11)p(15.4)
ORPHA:300305: Trisomy 11p15.4
ORPHA:300313: Congenital cataract-hearing loss-severe developmental delay syndrome
ORPHA:300313: Congenital cataract-deafness-severe developmental delay syndrome
ORPHA:300313: Huppke-Brendel syndrome
ORPHA:300313: Lethal neurodegenerative disorder due to copper transport defect
ORPHA:300319: Charcot-Marie-Tooth disease type 2P
ORPHA:300319: CMT2P
ORPHA:300324: Persistent polyclonal B-cell lymphocytosis
ORPHA:300324: PPBL
ORPHA:300324: Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes
ORPHA:300333: Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
ORPHA:300333: EBS with nephropathy
ORPHA:300333: Epidermolysis bullosa simplex with nephropathy
ORPHA:300333: Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome
ORPHA:300345: Autosomal systemic lupus erythematosus
ORPHA:300345: Autosomal SLE
ORPHA:300345: Familial SLE
ORPHA:300345: Familial systemic lupus erythematosus
ORPHA:300359: PLCG2-associated antibody deficiency and immune dysregulation
ORPHA:300359: FACU
ORPHA:300359: Familial atypical cold urticaria
ORPHA:300359: Familial cold urticaria with common variable immunodeficiency
ORPHA:300359: PLAID
ORPHA:300373: X-linked acrogigantism
ORPHA:300373: Familial infantile gigantism
ORPHA:300373: Hereditary infantile gigantism
ORPHA:300373: Hereditary pituitary hyperplasia
ORPHA:300373: Infantile gigantism due to pituitary hyperplasia
ORPHA:300373: X-LAG
ORPHA:300382: Progeroid and marfanoid aspect-lipodystrophy syndrome
ORPHA:300385: Pituitary carcinoma
ORPHA:3004: Mirror polydactyly-vertebral segmentation-limbs defects syndrome
ORPHA:300493: Sagliker syndrome
ORPHA:300496: Multiple congenital anomalies-hypotonia-seizures syndrome type 2
ORPHA:300496: MCAHS type 2
ORPHA:3005: Pyle disease
ORPHA:3005: Metaphyseal dysplasia, Pyle type
ORPHA:3005: SFRP4-related Pyle disease
ORPHA:300501: Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
ORPHA:300504: Onychocytic matricoma
ORPHA:300504: Acanthoma of the nail matrix
ORPHA:300512: Onychomatricoma
ORPHA:300515: Rare nail tumor
ORPHA:300525: Pseudohypoaldosteronism type 2D
ORPHA:300525: PHA2D
ORPHA:300530: Pseudohypoaldosteronism type 2E
ORPHA:300530: PHA2E
ORPHA:300536: DDOST-CDG
ORPHA:300536: CDG syndrome type Ir
ORPHA:300536: CDG-Ir
ORPHA:300536: CDG1R
ORPHA:300536: Carbohydrate deficient glycoprotein syndrome type Ir
ORPHA:300536: Congenital disorder of glycosylation type 1r
ORPHA:300536: Congenital disorder of glycosylation type Ir
ORPHA:300547: Autosomal recessive infantile hypercalcemia
ORPHA:300547: Familial infantile hypercalcemia with suppressed intact parathyroid hormone
ORPHA:300552: Follicular cholangitis and pancreatitis
ORPHA:300552: Follicular pancreatocholangitis
ORPHA:300557: Carcinoma of the ampulla of Vater
ORPHA:300557: Ampullary carcinoma
ORPHA:300557: Ampulloma
ORPHA:300564: Combined pulmonary fibrosis-emphysema syndrome
ORPHA:300564: CPFE
ORPHA:300570: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
ORPHA:300573: Polymicrogyria due to TUBB2B mutation
ORPHA:300576: Oligodontia-cancer predisposition syndrome
ORPHA:300576: Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome
ORPHA:300579: Staphylococcal toxemia
ORPHA:3006: Pyridoxine-dependent epilepsy
ORPHA:3006: Antiquitin deficiency
ORPHA:3006: Vitamin B6-dependent seizures
ORPHA:300605: Juvenile amyotrophic lateral sclerosis
ORPHA:300605: JALS
ORPHA:300605: Juvenile Charcot disease
ORPHA:300605: Juvenile Lou Gehrig disease
ORPHA:300751: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ORPHA:300755: Laminopathy with striated muscle involvement
ORPHA:300758: Laminopathy with peripheral neuropathy
ORPHA:300763: Laminopathy with lipodystrophy
ORPHA:300766: Laminopathy with premature aging
ORPHA:3008: Pyruvate carboxylase deficiency
ORPHA:3008: Ataxia with lactic acidosis type 2
ORPHA:3008: Ataxia with lactic acidosis type II
ORPHA:3008: Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency
ORPHA:3008: Leigh syndrome due to PC deficiency
ORPHA:3008: Leigh syndrome due to pyruvate carboxylase deficiency
ORPHA:300842: Indolent B-cell non-Hodgkin lymphoma
ORPHA:300842: Indolent B-cell NHL
ORPHA:300846: Aggressive B-cell non-Hodgkin lymphoma
ORPHA:300846: Aggressive B-cell NHL
ORPHA:300849: Diffuse large B-cell lymphoma of the central nervous system
ORPHA:300849: DLBCL of the CNS
ORPHA:300857: T-cell/histiocyte rich large B cell lymphoma
ORPHA:300857: THRLBCL
ORPHA:300865: Primary cutaneous anaplastic large cell lymphoma
ORPHA:300865: Primary C-ALCL
ORPHA:300865: Regressive atypical histiocytosis
ORPHA:300869: Splenic diffuse red pulp small B-cell lymphoma
ORPHA:300869: SDRPL
ORPHA:300869: Splenic diffuse red pulp lymphoma
ORPHA:300878: Hairy cell leukemia variant
ORPHA:300878: HCL-v
ORPHA:300878: Leukemic reticuloendotheliosis variant
ORPHA:300878: Prolymphocytic variant of HCL
ORPHA:300878: Prolymphocytic variant of hairy cell leukemia
ORPHA:300888: Diffuse large B-cell lymphoma with chronic inflammation
ORPHA:300888: DLBCL with chronic inflammation
ORPHA:300895: ALK-positive anaplastic large cell lymphoma
ORPHA:300895: ALK+ ALCL
ORPHA:300895: ALK+ anaplastic large cell lymphoma
ORPHA:300903: ALK-negative anaplastic large cell lymphoma
ORPHA:300903: ALK- ALCL
ORPHA:300903: ALK- anaplastic large cell lymphoma
ORPHA:300912: Marginal zone lymphoma
ORPHA:301: Ependymal tumor
ORPHA:3010: Qazi-Markouizos syndrome
ORPHA:3010: Dysharmonic skeletal maturation-muscular fiber disproportion syndrome
ORPHA:3011: Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
ORPHA:3011: Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome
ORPHA:3015: Radio-renal syndrome
ORPHA:3016: Absent radius-anogenital anomalies syndrome
ORPHA:3018: Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
ORPHA:3018: Rambaud-Gallian syndrome
ORPHA:3018: Rambaud-Gallian-Touchard syndrome
ORPHA:3019: Ramon syndrome
ORPHA:3019: Cherubism-gingival fibromatosis-intellectual disability syndrome
ORPHA:302: Inherited epidermodysplasia verruciformis
ORPHA:302: Lewandowsky-Lutz syndrome
ORPHA:302: Lutz-Lewandowsky epidermodysplasia verruciformis
ORPHA:3020: Ramsay Hunt syndrome
ORPHA:3020: Facial nerve palsy due to VZV
ORPHA:3020: Facial nerve palsy due to herpes zoster infection
ORPHA:3020: Facial nerve paralysis due to VZV
ORPHA:3021: RAPADILINO syndrome
ORPHA:3023: External auditory canal atresia-vertical talus-hypertelorism syndrome
ORPHA:3023: Rasmussen-Johnsen-Thomsen syndrome
ORPHA:3026: Radial ray hypoplasia-choanal atresia syndrome
ORPHA:3026: Goldblatt-Viljoen syndrome
ORPHA:3027: Caudal regression syndrome
ORPHA:3027: Caudal dysgenesis syndrome
ORPHA:3027: Caudal dysplasia
ORPHA:3027: Caudal regression sequence
ORPHA:303: Dystrophic epidermolysis bullosa
ORPHA:303: DEB
ORPHA:303: Dermolytic epidermolysis bullosa
ORPHA:303: Epidermolysis bullosa dystrophica
ORPHA:3032: NPHP3-related Meckel-like syndrome
ORPHA:3032: Goldston syndrome
ORPHA:3032: Meckel syndrome type 7
ORPHA:3032: Meckel-like syndrome type 1
ORPHA:3032: Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome
ORPHA:3033: Renal tubular dysgenesis
ORPHA:3033: Primitive renal tubule syndrome
ORPHA:3033: Renotubular dysgenesis
ORPHA:3034: Delayed membranous cranial ossification
ORPHA:3034: Gonzales-del Angel syndrome
ORPHA:3035: Growth delay-hydrocephaly-lung hypoplasia syndrome
ORPHA:3035: Game-Friedman-Paradice syndrome
ORPHA:3038: Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
ORPHA:3038: Mehes syndrome
ORPHA:30391: Isolated biliary atresia
ORPHA:30391: Isolated atresia of bile ducts
ORPHA:30391: Non-syndromic biliary atresia
ORPHA:304: Epidermolysis bullosa simplex
ORPHA:304: EBS
ORPHA:304055: Pituitary tumor
ORPHA:3041: Intellectual disability-balding-patella luxation-acromicria syndrome
ORPHA:3041: Scholte-Begeer-van Essen syndrome
ORPHA:3042: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
ORPHA:3042: Primrose syndrome
ORPHA:3044: Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
ORPHA:3047: Blepharophimosis-intellectual disability syndrome, SBBYS type