TaoMedAI/RareMedData huggingface dataset:
ORPHA:162: Congenital cataract-ASMD syndrome
ORPHA:162: Congenital cataract-anterior segment mesenchymal dysgenesis syndrome
ORPHA:1620: Distal deletion 3p syndrome
ORPHA:1620: 3p deletion syndrome
ORPHA:1620: 3p- syndrome
ORPHA:1620: Distal monosomy 3p
ORPHA:1620: Monosomy 3pter
ORPHA:1620: Telomeric monosomy 3p
ORPHA:1621: 3q13 microdeletion syndrome
ORPHA:1621: Del(3)(q13)
ORPHA:1621: Monosomy 3q13
ORPHA:162516: Isolated congenital nasal pyriform aperture stenosis
ORPHA:162516: Isolated apertura pyriformis stenosis
ORPHA:162516: Isolated nasal pyriform aperture hypoplasia
ORPHA:162526: Isolated congenital auditory ossicle malformation
ORPHA:162526: Congenital auditory ossicle malformation without external ear abnormality
ORPHA:1627: Deletion 5q35 syndrome
ORPHA:1627: Del (5)(q35)
ORPHA:1627: Del (5)(qter)
ORPHA:1627: Distal 5q deletion
ORPHA:1627: Monosomy 5q35
ORPHA:1627: Telomeric deletion 5q
ORPHA:163: Hereditary hyperferritinemia-cataract syndrome
ORPHA:163: HHCS
ORPHA:163: Hereditary hyperferritinemia with cataracts
ORPHA:163: Hereditary hyperferritinemia-cataract disease
ORPHA:163209: Non-syndromic cerebral malformation due to abnormal neuronal migration
ORPHA:163209: Brain malformation due to abnormal neuronal migration
ORPHA:163525: Subacute cutaneous lupus erythematosus
ORPHA:163531: Chronic cutaneous lupus erythematosus
ORPHA:163582: Rare bacterial infectious disease
ORPHA:163585: Rare viral disease
ORPHA:163588: Rare parasitic disease
ORPHA:163591: Rare mycosis
ORPHA:163596: Hb Bart's hydrops fetalis
ORPHA:163596: Alpha-thalassemia hydrops fetalis
ORPHA:163596: Alpha-thalassemia major
ORPHA:163596: BHFS
ORPHA:163596: HBHF
ORPHA:163596: Haemoglobin Bart's disease
ORPHA:163596: Haemoglobin Bart's hydrops fetalis
ORPHA:163596: Haemoglobin Bart's hydrops fetalis syndrome
ORPHA:163596: Hb Bart's hydrops fetalis syndrome
ORPHA:163596: Hemoglobin Bart's disease
ORPHA:163596: Hemoglobin Bart's hydrops fetalis
ORPHA:163596: Hemoglobin Bart's hydrops fetalis syndrome
ORPHA:163596: Homozygous alpha0-thalassemia
ORPHA:1636: Distal monosomy 7q36 syndrome
ORPHA:1636: Distal deletion 7q36
ORPHA:1636: Monosomy 7qter
ORPHA:1636: Telomeric deletion 7q36
ORPHA:163631: Bile acid synthesis defect with cholestasis and malabsorption
ORPHA:163634: Maffucci syndrome
ORPHA:163634: Enchondromatosis Spranger type II
ORPHA:163634: Multiple Enchondromatosis type II
ORPHA:163634: Multiple Enchondromatosis, Maffucci Type
ORPHA:163637: Rare disorder related with pregnancy, childbirth and puerperium
ORPHA:163649: Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
ORPHA:163649: Spondyloepiphyseal dysplasia, Nishimura type
ORPHA:163654: Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
ORPHA:163654: SED-BDS
ORPHA:163654: Spondyloepiphyseal dysplasia, Cantu type
ORPHA:163654: Tattoo dysplasia
ORPHA:163662: Spondyloepiphyseal dysplasia, Reardon type
ORPHA:163665: Spondyloepiphyseal dysplasia tarda, Kohn type
ORPHA:163668: Spondyloepiphyseal dysplasia, MacDermot type
ORPHA:163668: Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome
ORPHA:163668: Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome
ORPHA:163681: CNTNAP2-related developmental and epileptic encephalopathy
ORPHA:163681: CDFE syndrome
ORPHA:163681: CDFES
ORPHA:163681: CNTNAP2-related DEE
ORPHA:163681: Cortical dysplasia-focal epilepsy syndrome
ORPHA:163684: Leukoencephalopathy-dystonia-motor neuropathy syndrome
ORPHA:163690: Hypotonia-cystinuria syndrome
ORPHA:163690: HCS
ORPHA:163693: 2p21 microdeletion syndrome
ORPHA:163693: 2p21 deletion syndrome
ORPHA:163693: Del(2)(p21)
ORPHA:163693: Monosomy 2p21
ORPHA:163696: Action myoclonus-renal failure syndrome
ORPHA:163696: AMRF
ORPHA:163696: EPM4
ORPHA:163696: Myoclonus-nephropathy syndrome
ORPHA:163696: Progressive myoclonic epilepsy type 4
ORPHA:163696: Progressive myoclonus epilepsy type 4
ORPHA:163699: Alveolar soft tissue sarcoma
ORPHA:163699: ASPS
ORPHA:163699: Alveolar soft part sarcoma
ORPHA:163703: Febrile infection-related epilepsy syndrome
ORPHA:163703: AERRPS
ORPHA:163703: Acute encephalitis with refractory repetitive partial seizures
ORPHA:163703: Acute non-herpetic encephalitis with severe refractory status epilepticus
ORPHA:163703: DESC syndrome
ORPHA:163703: Devastating epileptic encephalopathy in school-aged children
ORPHA:163703: FIRES
ORPHA:163703: Fever-induced refractory epileptic encephalopathy in school-aged children
ORPHA:163708: Cryptogenic late-onset epileptic spasms
ORPHA:163708: Late-onset infantile spasms
ORPHA:163717: Benign familial mesial temporal lobe epilepsy
ORPHA:163717: Benign FMTLE
ORPHA:163721: Rolandic epilepsy-speech dyspraxia syndrome
ORPHA:163727: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
ORPHA:163727: Rolandic epilepsy exercise-induced dystonia
ORPHA:163746: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
ORPHA:163746: Neurologic Waardenburg-Shah syndrome
ORPHA:163746: PCWH
ORPHA:163746: WS4 plus
ORPHA:163921: Posttransplant acute limbic encephalitis
ORPHA:163921: PALE
ORPHA:163927: Pustulosis palmaris et plantaris
ORPHA:163927: LPP
ORPHA:163927: Localized pustular psoriasis
ORPHA:163927: PPP
ORPHA:163927: Palmoplantar pustulosis
ORPHA:163931: Acrodermatitis continua of Hallopeau
ORPHA:163934: Atopic keratoconjunctivitis
ORPHA:163937: X-linked intellectual disability, Najm type
ORPHA:163937: MICPCH
ORPHA:163937: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
ORPHA:163956: X-linked intellectual disability, Nascimento type
ORPHA:163956: X-linked intellectual disability-nail dystrophy-seizures syndrome
ORPHA:163961: X-linked cerebral-cerebellar-coloboma syndrome
ORPHA:163961: X-linked intellectual disability, Kroes type
ORPHA:163966: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
ORPHA:163966: X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
ORPHA:163971: X-linked intellectual disability, Cilliers type
ORPHA:163971: X-linked intellectual disability-microcephaly-testicular failure syndrome
ORPHA:163976: X-linked intellectual disability, Van Esch type
ORPHA:163979: X-linked intellectual disability-craniofacioskeletal syndrome
ORPHA:163985: Hyperekplexia-epilepsy syndrome
ORPHA:164001: Rare odontal or periodontal disorder
ORPHA:164004: Middle and/or inner ear anomaly
ORPHA:1642: Distal deletion 9p syndrome
ORPHA:1642: Distal monosomy 9p
ORPHA:1642: Monosomy 9pter
ORPHA:1642: Telomeric deletion 9p
ORPHA:1643: Xp22.3 microdeletion syndrome
ORPHA:1643: Del(X)(p23)
ORPHA:1646: Chromosome Y microdeletion syndrome
ORPHA:1646: Male infertility due to chromosome Y microdeletion
ORPHA:1646: Microdeletion of the AZF region on the Y chromosome
ORPHA:1647: Oculocerebrocutaneous syndrome
ORPHA:1647: Delleman syndrome
ORPHA:1647: Delleman-Oorthuys syndrome
ORPHA:1647: Leichtman-Wood-Rohn syndrome
ORPHA:1647: OCCS
ORPHA:1647: Orbital cyst with cerebral and focal dermal malformations
ORPHA:164726: Acute myeloid leukemia and myelodysplastic syndromes related to radiation
ORPHA:164726: AML and myelodysplastic syndromes related to radiation
ORPHA:164736: Familial advanced sleep-phase syndrome
ORPHA:164736: FASPS
ORPHA:164823: Rare acquired aplastic anemia
ORPHA:165: Neutral lipid storage disease
ORPHA:165: Lipidosis with triglyceride storage disease
ORPHA:1652: Dent disease
ORPHA:1652: Dent syndrome
ORPHA:1652: Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis
ORPHA:1652: Renal Fanconi syndrome with nephrocalcinosis and renal stones
ORPHA:1652: X-linked recessive hypercalciuric hypophosphatemic rickets
ORPHA:1652: X-linked recessive nephrolithiasis
ORPHA:1653: Dentin dysplasia
ORPHA:1653: DD
ORPHA:1655: Müllerian derivatives-lymphangiectasia-polydactyly syndrome
ORPHA:1655: Urioste syndrome
ORPHA:1656: Dermatitis herpetiformis
ORPHA:1656: Duhring-Brocq disease
ORPHA:165652: Rare genetic gastroenterological disease
ORPHA:165655: Genetic intestinal disease
ORPHA:165658: Genetic gastro-esophageal disease
ORPHA:165661: Genetic pancreatic disease
ORPHA:1657: Dermatoosteolysis, Kirghizian type
ORPHA:165704: Non-syndromic urogenital tract malformation
ORPHA:165707: Syndromic urogenital tract malformation
ORPHA:165711: Rare abdominal surgical disease
ORPHA:1658: Absence of fingerprints-congenital milia syndrome
ORPHA:1658: Absence of dermatoglyphics-congenital milia syndrome
ORPHA:1658: Baird syndrome
ORPHA:1658: Basan-Baird syndrome
ORPHA:165805: Familial mesial temporal lobe epilepsy with febrile seizures
ORPHA:1659: Dermatoleukodystrophy
ORPHA:1659: Cutis laxa-leukodystrophy
ORPHA:165955: Wound myiasis
ORPHA:165955: Traumatic myiasis
ORPHA:165958: Cavitary myiasis
ORPHA:165985: Diazoxide-sensitive diffuse hyperinsulinism
ORPHA:165985: Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form
ORPHA:165988: Diazoxide-resistant diffuse hyperinsulinism
ORPHA:165988: Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form
ORPHA:165991: Exercise-induced hyperinsulinism
ORPHA:165991: EIHI
ORPHA:165991: Exercise-induced hyperinsulinemic hypoglycemia
ORPHA:165991: Hyperinsulinism due to SLC16A1 deficiency
ORPHA:165991: Hyperinsulinism due to monocarboxylate transporter 1 deficiency
ORPHA:166: Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
ORPHA:166: CMT/HMSN
ORPHA:166: Charcot-Marie-Tooth hereditary neuropathy
ORPHA:1660: Dermoodontodysplasia
ORPHA:166002: Multiple epiphyseal dysplasia due to collagen 9 anomaly
ORPHA:166016: Multiple epiphyseal dysplasia, Lowry type
ORPHA:166016: Multiple epiphyseal dysplasia with Robin phenotype
ORPHA:166024: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
ORPHA:166024: Multiple epiphyseal dysplasia, Al-Gazali type
ORPHA:166029: Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome
ORPHA:166032: Multiple epiphyseal dysplasia-miniepiphyses syndrome
ORPHA:166035: Brachydactyly-short stature-retinitis pigmentosa syndrome
ORPHA:166038: Metaphyseal chondrodysplasia, Kaitila type
ORPHA:166063: Pontocerebellar hypoplasia type 4
ORPHA:166063: Fatal infantile encephalopathy with olivopontocerebellar hypoplasia
ORPHA:166063: Olivopontocerebellar hypoplasia
ORPHA:166063: PCH4
ORPHA:166073: Pontocerebellar hypoplasia type 6
ORPHA:166073: Fatal infantile encephalopathy with mitochondrial respiratory chain defects
ORPHA:166073: PCH6
ORPHA:166078: Von Willebrand disease type 1
ORPHA:166081: Von Willebrand disease type 2
ORPHA:166084: Von Willebrand disease type 2A
ORPHA:166087: Von Willebrand disease type 2B
ORPHA:166090: Von Willebrand disease type 2M
ORPHA:166093: Von Willebrand disease type 2N
ORPHA:166096: Von Willebrand disease type 3
ORPHA:1661: X-linked corneal dermoid
ORPHA:1661: Corneal dystrophy epithelial-short stature syndrome
ORPHA:1661: Guízar Vázquez-Luengas-Muñoz syndrome
ORPHA:166100: Autosomal dominant otospondylomegaepiphyseal dysplasia
ORPHA:166100: AD OSMED
ORPHA:166100: Stickler syndrome type 3
ORPHA:166100: Stickler syndrome, non-ocular type
ORPHA:166105: FASTKD2-related infantile mitochondrial encephalomyopathy
ORPHA:166108: Birk-Barel syndrome
ORPHA:166108: Birk-Barel Intellectual Disability-Dimorphism syndrome
ORPHA:166108: Intellectual disability-hypotonia-facial dysmorphism syndrome
ORPHA:166108: KCNK9 imprinting syndrome
ORPHA:166113: Bazex syndrome
ORPHA:166113: Acrokeratosis of Bazex
ORPHA:166113: Acrokeratosis paraneoplastica
ORPHA:166113: Acrokeratosis paraneoplastica of Bazex
ORPHA:166119: Isolated osteopoikilosis
ORPHA:1662: Restrictive dermopathy
ORPHA:1662: Lethal hyperkeratosis-contracture syndrome
ORPHA:1662: Lethal restrictive dermopathy
ORPHA:1662: Lethal tight skin-contracture syndrome
ORPHA:166260: Dentinogenesis imperfecta type 2
ORPHA:166260: Capdepont teeth
ORPHA:166260: DGI-2
ORPHA:166260: DI-2
ORPHA:166260: Dentinogenesis imperfecta, Shields type 2
ORPHA:166265: Dentinogenesis imperfecta type 3
ORPHA:166265: Dentinogenesis imperfecta, Shields type 3
ORPHA:166272: Odontochondrodysplasia
ORPHA:166272: Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome
ORPHA:166272: Goldblatt chondrodysplasia
ORPHA:166272: Goldblatt syndrome
ORPHA:166272: ODCD
ORPHA:166277: Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
ORPHA:166277: Suarez-Stickler syndrome
ORPHA:166282: Familial sick sinus syndrome
ORPHA:166286: Porokeratotic eccrine ostial and dermal duct nevus
ORPHA:166286: Comedo nevus of the palm
ORPHA:166286: Porokeratotic eccrine nevus
ORPHA:166291: Dirofilariasis
ORPHA:166305: Benign infantile seizures associated with mild gastroenteritis
ORPHA:166308: Benign infantile focal epilepsy with midline spikes and waves during sleep
ORPHA:166308: BIMSE
ORPHA:166311: Benign partial infantile seizures
ORPHA:166409: Photosensitive epilepsy
ORPHA:166412: Hot water reflex epilepsy
ORPHA:166415: Audiogenic seizures
ORPHA:166418: Eating reflex epilepsy
ORPHA:166418: Eating epilepsy
ORPHA:166418: Eating seizures
ORPHA:166421: Orgasm-induced seizures
ORPHA:166424: Thinking seizures
ORPHA:166427: Startle epilepsy
ORPHA:166430: Micturation-induced seizures
ORPHA:166433: Reading seizures
ORPHA:166463: Epilepsy syndrome
ORPHA:166466: Neurocutaneous syndrome with epilepsy
ORPHA:166469: Chromosomal anomaly with epilepsy as a major feature
ORPHA:166472: Monogenic disease with epilepsy
ORPHA:166475: Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
ORPHA:166478: Cerebral malformation with epilepsy
ORPHA:166481: Metabolic diseases with epilepsy
ORPHA:166484: Inflammatory and autoimmune disease with epilepsy
ORPHA:166487: Cerebral diseases of vascular origin with epilepsy
ORPHA:166490: Infectious disease with epilepsy
ORPHA:1665: Sporadic fetal brain disruption sequence
ORPHA:1666: Dextrocardia
ORPHA:1667: Wolcott-Rallison syndrome
ORPHA:1667: Early-onset diabetes mellitus with multiple epiphyseal dysplasia
ORPHA:1667: WRS
ORPHA:166775: Rare hemorrhagic disorder due to an acquired coagulation factor defect
ORPHA:166775: Rare bleeding disorder due to an acquired coagulation factor defect
ORPHA:166775: Rare coagulopathy due to an acquired coagulation factor defect
ORPHA:167: Chédiak-Higashi syndrome
ORPHA:167: Chédiak-Higashi disease
ORPHA:167: Chédiak-Higashi-Steinbrink syndrome
ORPHA:1670: Chronic diarrhea with villous atrophy
ORPHA:1671: Split cord malformation type I
ORPHA:1671: Diastematomyelia
ORPHA:1671: SCM type 1
ORPHA:1671: SCM type I
ORPHA:1671: Split cord malformation type 1
ORPHA:1672: Diencephalic syndrome
ORPHA:1672: Diencephalic cachexia
ORPHA:1672: Diencephalic syndrome of childhood
ORPHA:1672: Diencephalic syndrome of emaciation
ORPHA:1672: Russell diencephalic cachexia
ORPHA:1672: Russell syndrome
ORPHA:1675: Dihydropyrimidine dehydrogenase deficiency
ORPHA:1675: Familial pyrimidinemia
ORPHA:1676: Idiopathic pulmonary artery dilatation
ORPHA:167635: Scleromyxedema
ORPHA:167635: Arndt-Gottron disease
ORPHA:167635: Generalized lichenoid papular eruption
ORPHA:167635: Generalized papular and sclerodermoid lichen myxedematosus
ORPHA:1677: Familial idiopathic dilatation of the right atrium
ORPHA:167714: Unclassified acute myeloid leukemia
ORPHA:167714: Unclassified AML
ORPHA:167759: Hereditary dentin defect
ORPHA:167762: Rare disease with dentinogenesis imperfecta
ORPHA:167848: Rare cardiomyopathy
ORPHA:1679: Diphtheria
ORPHA:168: Loose anagen syndrome
ORPHA:1681: Diprosopus
ORPHA:1681: Craniofacial duplication
ORPHA:1681: Diprosopia
ORPHA:168194: Rare cardiac tumor
ORPHA:1682: Arterial dissection-lentiginosis syndrome
ORPHA:168443: Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
ORPHA:168451: Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
ORPHA:168451: SEMDAD
ORPHA:168454: Spondyloepimetaphyseal dysplasia, Geneviève type
ORPHA:168454: SEMD, Geneviève type
ORPHA:168454: SEMDG
ORPHA:1685: Distomatosis
ORPHA:1685: Distomiasis
ORPHA:1685: Fluke infection
ORPHA:168544: Spondylometaphyseal dysplasia, Golden type
ORPHA:168544: X-linked spondylometaphyseal dysplasia
ORPHA:168549: Axial spondylometaphyseal dysplasia
ORPHA:168552: Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
ORPHA:168555: Spondylometaphyseal dysplasia, A4 type
ORPHA:168558: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
ORPHA:168558: 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
ORPHA:168558: XY sex reversal-adrenal failure
ORPHA:168563: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
ORPHA:168566: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
ORPHA:168566: Fatal mitochondrial disease due to COXPD3
ORPHA:168569: H syndrome
ORPHA:168572: Native American myopathy
ORPHA:168572: Congenital myopathy-cleft palate-malignant hyperthermia syndrome
ORPHA:168577: Hereditary cryohydrocytosis with reduced stomatin
ORPHA:168577: CHC type 2
ORPHA:168577: Hereditary cryohydrocytosis type 2
ORPHA:168577: Stomatin-deficient cryohydrocytosis
ORPHA:168577: sdCHC
ORPHA:168583: Hereditary North American Indian childhood cirrhosis
ORPHA:168588: Hyperandrogenism due to cortisone reductase deficiency
ORPHA:168588: 11-beta-hydroxysteroid dehydrogenase deficiency type 1
ORPHA:168593: Sudden infant death-dysgenesis of the testes syndrome
ORPHA:168593: SIDDT
ORPHA:168598: Methionine adenosyltransferase I/III deficiency
ORPHA:168598: MAT I/III deficiency
ORPHA:168598: Mudd's disease
ORPHA:1686: Cardiac diverticulum
ORPHA:168601: Congenital enteropathy due to enteropeptidase deficiency
ORPHA:168601: Congenital enterokinase deficiency
ORPHA:168606: Seborrhea-like dermatitis with psoriasiform elements
ORPHA:168612: Congenital deficiency in alpha-fetoprotein
ORPHA:168615: Hereditary persistence of alpha-fetoprotein
ORPHA:168621: Dysplasia of head of femur, Meyer type
ORPHA:168621: DECF
ORPHA:168621: Dysplasia epiphysealis capitis femoris
ORPHA:168621: Meyer dysplasia
ORPHA:168624: Familial scaphocephaly syndrome, McGillivray type
ORPHA:168624: Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome
ORPHA:168629: Autosomal thrombocytopenia with normal platelets
ORPHA:168632: Generalized basaloid follicular hamartoma syndrome
ORPHA:168778: Rare pervasive developmental disorder
ORPHA:168778: Rare ASD
ORPHA:168778: Rare PDD
ORPHA:168778: Rare autism spectrum disorder
ORPHA:168782: Childhood disintegrative disorder
ORPHA:168782: Dementia infantilis
ORPHA:168782: Heller syndrome
ORPHA:168796: Heart-hand syndrome, Slovenian type
ORPHA:168796: Atriodigital dysplasia, Slovenian type
ORPHA:168796: Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome
ORPHA:168803: Primary peritoneal tumor
ORPHA:168807: Primary malignant peritoneal tumor
ORPHA:168811: Malignant peritoneal mesothelioma
ORPHA:168811: Diffuse malignant peritoneal mesothelioma
ORPHA:168811: Primary malignant peritoneal mesothelioma
ORPHA:168816: Peritoneal inclusion cyst
ORPHA:168816: Benign multicystic peritoneal mesothelioma
ORPHA:168816: Multicystic mesothelioma
ORPHA:168816: Multilocular peritoneal inclusion cyst
ORPHA:168816: Peritoneal cyctic mesothelioma
ORPHA:168829: Primary peritoneal carcinoma
ORPHA:168829: EOPPC
ORPHA:168829: Extra-ovarian primary peritoneal carcinoma
ORPHA:168829: PPC
ORPHA:168829: Primary peritoneal serous carcinoma
ORPHA:168829: Serous surface papillary carcinoma
ORPHA:168940: Chronic eosinophilic leukemia
ORPHA:168943: Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2
ORPHA:168947: Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
ORPHA:168950: Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
ORPHA:168953: Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
ORPHA:168953: 8p11 myeloproliferative syndrome
ORPHA:168953: Stem cell leukemia/lymphoma
ORPHA:168956: Hypereosinophilic syndrome
ORPHA:168956: HES
ORPHA:168960: Refractory anemia with excess blasts in transformation
ORPHA:168960: RAEB-t
ORPHA:168966: Composite lymphoma
ORPHA:168966: Composite Hodgkin and non-Hodgkin lymphoma
ORPHA:168984: CLAPO syndrome
ORPHA:168999: Malignant melanoma of the mucosa
ORPHA:169: Ringed hair disease
ORPHA:169: Pili annulati
ORPHA:169079: Cernunnos-XLF deficiency
ORPHA:169079: Cernunnos XLFD
ORPHA:169079: Cernunnos deficiency
ORPHA:169079: Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome
ORPHA:169079: NHEJ1 deficiency
ORPHA:169082: Combined immunodeficiency due to CD3gamma deficiency
ORPHA:169085: Susceptibility to respiratory infections associated with CD8alpha chain mutation
ORPHA:169085: Familial CD8 deficiency
ORPHA:169090: Combined immunodeficiency due to CRAC channel dysfunction
ORPHA:169090: Immune dysfunction due to T-cell inactivation due to calcium entry defect
ORPHA:169095: Severe combined immunodeficiency due to FOXN1 deficiency
ORPHA:169095: Alymphoid cystic thymic dysgenesis
ORPHA:169095: Nude/SCID
ORPHA:169095: Nude/severe combined immunodeficiency
ORPHA:169095: SCID due to FOXN1 deficiency
ORPHA:169095: Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome
ORPHA:169095: Winged helix deficiency
ORPHA:169100: Immunodeficiency due to CD25 deficiency
ORPHA:169100: Interleukin-2 receptor alpha chain deficiency
ORPHA:169105: Good syndrome
ORPHA:169105: Thymoma-immunodeficiency syndrome
ORPHA:169110: Immunoglobulin heavy chain deficiency
ORPHA:169139: Transient hypogammaglobulinemia of infancy
ORPHA:169142: Recurrent infections due to specific granule deficiency
ORPHA:169142: Neutrophil-specific granule deficiency
ORPHA:169147: Immunodeficiency due to a classical component pathway complement deficiency
ORPHA:169147: Immunodeficiency due to C1, C4, or C2 component complement deficiency
ORPHA:169147: Immunodeficiency due to an early component of complement deficiency
ORPHA:169150: Immunodeficiency due to a late component of complement deficiency
ORPHA:169150: Immunodeficiency due to C5 to C9 component complement deficiency
ORPHA:169150: Terminal complement pathway deficiency
ORPHA:169154: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
ORPHA:169154: T-B+ SCID due to IL-7Ralpha deficiency
ORPHA:169157: T-B+ severe combined immunodeficiency due to CD45 deficiency
ORPHA:169157: T-B+ SCID due to CD45 deficiency
ORPHA:169160: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
ORPHA:169160: T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
ORPHA:169163: Familial scaphocephaly syndrome
ORPHA:169186: Autosomal recessive centronuclear myopathy
ORPHA:169186: AR-CNM
ORPHA:169189: Autosomal dominant centronuclear myopathy
ORPHA:169189: AD-CNM
ORPHA:1692: Mosaic trisomy 1 syndrome
ORPHA:1692: Mosaic trisomy chromosome 1
ORPHA:1692: Trisomy 1 mosaicism
ORPHA:169346: DNA repair defect other than combined T-cell and B-cell immunodeficiencies
ORPHA:169349: Immuno-osseous dysplasia
ORPHA:169355: Immunodeficiency syndrome with autoimmunity
ORPHA:169361: Immune dysregulation disease with immunodeficiency
ORPHA:169443: Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
ORPHA:169464: Primary CD59 deficiency
ORPHA:169467: Recurrent Neisseria infections due to factor D deficiency
ORPHA:1695: Non-distal duplication 10q syndrome
ORPHA:1695: Non-distal trisomy 10q
ORPHA:1695: Non-telomeric trisomy 10q
ORPHA:169793: Severe hemophilia B
ORPHA:169793: Severe congenital F9 deficiency
ORPHA:169793: Severe congenital factor IX deficiency
ORPHA:169796: Moderate hemophilia B
ORPHA:169796: Moderate congenital F9 deficiency
ORPHA:169796: Moderate congenital factor IX deficiency
ORPHA:169799: Mild hemophilia B
ORPHA:169799: Mild congenital F9 deficiency
ORPHA:169799: Mild congenital factor IX deficiency
ORPHA:1698: Mosaic trisomy 12 syndrome
ORPHA:1698: Mosaic trisomy chromosome 12
ORPHA:1698: Trisomy 12 mosaicism
ORPHA:169802: Severe hemophilia A
ORPHA:169802: Severe congenital F8 deficiency
ORPHA:169802: Severe congenital factor VIII deficiency
ORPHA:169805: Moderate hemophilia A
ORPHA:169805: Moderate congenital F8 deficiency
ORPHA:169805: Moderate congenital factor VIII deficiency
ORPHA:169808: Mild hemophilia A
ORPHA:169808: Mild congenital F8 deficiency
ORPHA:169808: Mild congenital factor VIII deficiency