TaoMedAI/RareMedData huggingface dataset:
ORPHA:86813: SCRA
ORPHA:86813: Sveinsson chorioretinal atrophy
ORPHA:86814: Benign adult familial myoclonic epilepsy
ORPHA:86814: ADCME
ORPHA:86814: Autosomal dominant cortical myoclonus and epilepsy
ORPHA:86814: BAFME
ORPHA:86814: Benign adult familial myoclonus epilepsy
ORPHA:86814: FAME
ORPHA:86814: FCMTE
ORPHA:86814: Familial adult myoclonic epilepsy
ORPHA:86814: Familial cortical myoclonic tremor and epilepsy
ORPHA:86815: Aplasia of lacrimal and salivary glands
ORPHA:86815: ALSG
ORPHA:86815: Congenital absence of lacrimal puncta and salivary glands
ORPHA:86816: Congenital analbuminemia
ORPHA:86817: Hemolytic anemia due to adenylate kinase deficiency
ORPHA:86818: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
ORPHA:86818: AMME complex
ORPHA:86818: AMME syndrome
ORPHA:86818: ATS-MR
ORPHA:86819: Atrichia with papular lesions
ORPHA:86819: Papular atrichia
ORPHA:86820: Familial avascular necrosis of femoral head
ORPHA:86820: Familial osteonecrosis of the femoral head
ORPHA:86821: Lissencephaly type 3-familial fetal akinesia sequence syndrome
ORPHA:86822: Lissencephaly type 3-metacarpal bone dysplasia syndrome
ORPHA:86823: Lissencephaly with cerebellar hypoplasia
ORPHA:86823: LCH
ORPHA:86829: Chronic neutrophilic leukemia
ORPHA:86830: Chronic myeloproliferative disease, unclassifiable
ORPHA:86830: CMPD-U
ORPHA:86830: Undifferentiated myeloproliferative disease
ORPHA:86834: Juvenile myelomonocytic leukemia
ORPHA:86834: JMML
ORPHA:86834: Juvenile chronic myelomonocytic leukemia
ORPHA:86836: Refractory cytopenia with multilineage dysplasia
ORPHA:86839: Myelodysplastic neoplasm with increased blasts
ORPHA:86839: MDS with excess blasts
ORPHA:86839: MDS-IB
ORPHA:86839: RAEB
ORPHA:86839: Refractory anemia with excess blasts
ORPHA:86841: Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
ORPHA:86841: 5q- syndrome
ORPHA:86843: Acute panmyelosis with myelofibrosis
ORPHA:86843: Acute myelodysplasia with myelofibrosis
ORPHA:86843: Acute myelofibrosis
ORPHA:86845: Acute myeloid leukaemia with myelodysplasia-related features
ORPHA:86845: AML with multilineage dysplasia
ORPHA:86845: AML with myelodysplasia-related features
ORPHA:86845: Acute myeloid leukemia with multilineage dysplasia
ORPHA:86846: Therapy related acute myeloid leukemia and myelodysplastic syndrome
ORPHA:86846: Secondary AML
ORPHA:86846: Secondary acute myeloid leukemia
ORPHA:86846: Therapy-related AML and myelodysplastic syndrome
ORPHA:86849: Acute basophilic leukemia
ORPHA:86850: Myeloid sarcoma
ORPHA:86850: Chloroma
ORPHA:86850: Extramedullary myeloid tumor
ORPHA:86850: Granulocytic sarcoma
ORPHA:86851: Acute leukemia of ambiguous lineage
ORPHA:86851: Acute leukemia of indeterminate lineage
ORPHA:86851: Hybrid acute leukemia
ORPHA:86851: Mixed lineage acute leukemia
ORPHA:86852: B-cell prolymphocytic leukemia
ORPHA:86852: B-PLL
ORPHA:86854: Splenic marginal zone lymphoma
ORPHA:86854: SMZL
ORPHA:86855: Plasmacytoma
ORPHA:86855: Solitary plasmacytoma
ORPHA:86861: Non-amyloid monoclonal immunoglobulin deposition disease
ORPHA:86861: Non-amyloid MIDD
ORPHA:86861: Randall disease
ORPHA:86864: Heavy chain disease
ORPHA:86864: HCD
ORPHA:86867: Nodal marginal zone B-cell lymphoma
ORPHA:86867: NMZL
ORPHA:86869: Lymphomatoid granulomatosis
ORPHA:86869: LYG
ORPHA:86870: Blastic plasmacytoid dendritic cell neoplasm
ORPHA:86870: BPDCN
ORPHA:86871: T-cell prolymphocytic leukemia
ORPHA:86871: T-PLL
ORPHA:86871: T-cell chronic lymphocytic leukemia
ORPHA:86872: T-cell large granular lymphocyte leukemia
ORPHA:86872: Proliferation of large granular lymphocytes
ORPHA:86872: T-LGL
ORPHA:86872: T-cell LGL leukemia
ORPHA:86873: Aggressive NK-cell leukemia
ORPHA:86873: ANKCL
ORPHA:86873: Aggressive NK-cell lymphoma
ORPHA:86873: NK-cell LGL leukemia
ORPHA:86873: NK-cell large granular lymphocyte leukemia
ORPHA:86875: Adult T-cell leukemia/lymphoma
ORPHA:86875: ATLL
ORPHA:86879: Extranodal nasal NK/T cell lymphoma
ORPHA:86879: Angiocentric T-cell lymphoma
ORPHA:86879: Lethal midline granuloma
ORPHA:86879: NK/T-cell lymphoma
ORPHA:86879: NKTCL
ORPHA:86879: Nasal T/natural killer-cell lymphoma
ORPHA:86880: Enteropathy-associated T-cell lymphoma
ORPHA:86880: EATL
ORPHA:86880: ETTL
ORPHA:86880: Enteropathy-associated T-cell lymphoma type 1
ORPHA:86880: Enteropathy-type T-cell lymphoma
ORPHA:86880: Intestinal T-cell lymphoma
ORPHA:86882: Hepatosplenic T-cell lymphoma
ORPHA:86884: Subcutaneous panniculitis-like T-cell lymphoma
ORPHA:86884: SPTCL
ORPHA:86884: Subcutaneous panniculitic T-cell lymphoma
ORPHA:86885: Primary cutaneous peripheral T-cell lymphoma not otherwise specified
ORPHA:86885: Primary cutaneous peripheral T-cell lymphoma NOS
ORPHA:86885: Primary cutaneous unspecified peripheral T-cell lymphoma
ORPHA:86886: Angioimmunoblastic T-cell lymphoma
ORPHA:86886: AILT
ORPHA:86886: Immunoblastic lymphadenopathy
ORPHA:86886: Lymphogranulomatosis X
ORPHA:86886: T-cell lymphoma, AILD type
ORPHA:86893: Nodular lymphocyte predominant Hodgkin lymphoma
ORPHA:86893: NLPHL
ORPHA:86896: Histiocytic sarcoma
ORPHA:86897: Langerhans cell sarcoma
ORPHA:869: Triple A syndrome
ORPHA:869: 2A syndrome
ORPHA:869: 3A syndrome
ORPHA:869: 4A syndrome
ORPHA:869: AAA syndrome
ORPHA:869: Achalasia-addisonianism-alacrima syndrome
ORPHA:869: Adrenal insufficiency-achalasia-alacrima syndrome
ORPHA:869: Allgrove syndrome
ORPHA:869: Double A syndrome
ORPHA:869: Quaternary A syndrome
ORPHA:86900: Interdigitating dendritic cell sarcoma
ORPHA:86900: Interdigitating cell sarcoma
ORPHA:86900: Reticulum cell sarcoma
ORPHA:86902: Follicular dendritic cell sarcoma
ORPHA:86903: Dendritic cell sarcoma not otherwise specified
ORPHA:86904: Methotrexate-associated lymphoproliferative disorders
ORPHA:86904: MTX-LPD
ORPHA:86904: MTX-associated lymphoproliferative disorders
ORPHA:86906: Hypothalamic hamartomas with gelastic seizures
ORPHA:86908: Hemiconvulsion-hemiplegia-epilepsy syndrome
ORPHA:86908: HHE
ORPHA:86908: HHE syndrome
ORPHA:86908: IHHS
ORPHA:86909: Myoclonic epilepsy of infancy
ORPHA:86909: Benign myoclonic epilepsy of infancy
ORPHA:86909: Benign myoclonus epilepsy of infancy
ORPHA:86911: Epilepsy with myoclonic absences
ORPHA:86913: Myoclonic epilepsy in non-progressive encephalopathies
ORPHA:86913: Myoclonic status in non-progressive encephalopathies
ORPHA:86913: Myoclonus epilepsy in non-progressive encephalopathies
ORPHA:86914: Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome
ORPHA:86915: Lymphedema-atrial septal defects-facial changes syndrome
ORPHA:86915: Irons-Bhan syndrome
ORPHA:86915: Irons-Bianchi syndrome
ORPHA:86918: Diffuse palmoplantar keratoderma-acrocyanosis syndrome
ORPHA:86918: Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome
ORPHA:86919: Keratosis palmaris et plantaris-clinodactyly syndrome
ORPHA:86919: Palmoplantar keratoderma-clinodactyly syndrome
ORPHA:86920: Dermatopathia pigmentosa reticularis
ORPHA:86923: Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
ORPHA:86923: Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type
ORPHA:86923: PPK, Gamborg-Nielsen type
ORPHA:87: Apert syndrome
ORPHA:87: ACS1
ORPHA:87: Acrocephalosyndactyly type 1
ORPHA:870: Down syndrome
ORPHA:870: Trisomy 21
ORPHA:871: Familial progressive cardiac conduction defect
ORPHA:871: Familial Lenègre disease
ORPHA:871: Familial Lev disease
ORPHA:871: Familial Lev-Lenègre disease
ORPHA:871: Familial PCCD
ORPHA:871: Familial progressive heart block
ORPHA:871: Hereditary bundle branch defect
ORPHA:87277: Rare intellectual disability
ORPHA:873: Desmoid tumor
ORPHA:873: Aggressive fibromatosis
ORPHA:873: Desmoid type fibromatosis
ORPHA:874: Primary adult heart tumor
ORPHA:874: Adult cardiac tumor
ORPHA:874: Adult heart tumor
ORPHA:875: Primary pediatric heart tumor
ORPHA:875: Cardiac tumor of child
ORPHA:875: Heart tumor of child
ORPHA:87503: Mal de Meleda
ORPHA:87503: Keratosis palmoplantaris transgrediens of Siemens
ORPHA:87503: Meleda disease
ORPHA:87503: Transgrediens palmoplantar keratoderma of Siemens
ORPHA:876: Yolk sac tumor
ORPHA:876: Endodermal sinus tumor
ORPHA:877: Neuroendocrine neoplasm
ORPHA:87876: Sialidosis type 2
ORPHA:87876: Infantile dysmorphic sialidosis
ORPHA:87884: Non-syndromic genetic deafness
ORPHA:87884: Isolated genetic deafness
ORPHA:87884: Isolated genetic hearing loss
ORPHA:87884: Non-syndromic genetic hearing loss
ORPHA:879: Tungiasis
ORPHA:88: Idiopathic aplastic anemia
ORPHA:88: Idiopathic bone marrow failure
ORPHA:881: Turner syndrome
ORPHA:881: 45,X syndrome
ORPHA:881: 45,X/46,XX syndrome
ORPHA:882: Tyrosinemia type 1
ORPHA:882: FAH deficiency
ORPHA:882: Fumarylacetoacetase deficiency
ORPHA:882: Fumarylacetoacetate hydrolase deficiency
ORPHA:882: Hepatorenal tyrosinemia
ORPHA:882: Tyrosinemia type I
ORPHA:883: Extragonadal teratoma
ORPHA:884: Tetrasomy 12p syndrome
ORPHA:884: Isochromosome 12p mosaicism
ORPHA:884: Isochromosome 12p syndrome
ORPHA:884: Pallister-Killian syndrome
ORPHA:886: Usher syndrome
ORPHA:886: Retinitis pigmentosa-deafness syndrome
ORPHA:886: Retinitis pigmentosa-hearing loss syndrome
ORPHA:886: USH
ORPHA:88616: Autosomal recessive non-syndromic intellectual disability
ORPHA:88616: AR-NSID
ORPHA:88616: NS-ARID
ORPHA:88618: S-adenosylhomocysteine hydrolase deficiency
ORPHA:88619: Familial acute necrotizing encephalopathy
ORPHA:88619: ADANE
ORPHA:88619: Recurrent acute necrotizing encephalopathy
ORPHA:88620: Isolated congenital anosmia
ORPHA:88621: Ichthyosis-prematurity syndrome
ORPHA:88621: Congenital ichthyosis type 4
ORPHA:88621: IPS
ORPHA:88628: Posterior column ataxia-retinitis pigmentosa syndrome
ORPHA:88628: Autosomal recessive posterior column ataxia and retinitis pigmentosa
ORPHA:88628: PCARP
ORPHA:88629: Tritanopia
ORPHA:88629: Blue colour blindness
ORPHA:88629: Congenital tritanopia
ORPHA:88629: Tritan colour blindness
ORPHA:88630: Terminal osseous dysplasia-pigmentary defects syndrome
ORPHA:88632: Anterior segment developmental anomaly
ORPHA:88632: Anterior segment dysgenesis
ORPHA:88633: Superior limbic keratoconjunctivitis
ORPHA:88633: SLK
ORPHA:88633: Theodore superior limbic keratoconjunctivitis
ORPHA:88633: Theodore syndrome
ORPHA:88635: Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
ORPHA:88635: Myopathy due to calsequestrin and SERCA1 protein overload
ORPHA:88635: Vacuolar aggregate myopathy
ORPHA:88637: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
ORPHA:88637: 4H syndrome
ORPHA:88639: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
ORPHA:88639: HIBCH deficiency
ORPHA:88639: Methacrylic aciduria
ORPHA:88639: Valine metabolic defect
ORPHA:88642: Congenital insensitivity to pain-anosmia-neuropathic arthropathy
ORPHA:88642: SCN9A-related congenital insensitivity to pain
ORPHA:88643: Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
ORPHA:88644: Autosomal recessive ataxia, Beauce type
ORPHA:88644: ARCA1
ORPHA:88644: Autosomal recessive cerebellar ataxia type 1
ORPHA:88644: SCAR8
ORPHA:88659: Autosomal dominant progressive nephropathy with hypertension
ORPHA:88660: Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
ORPHA:88660: Early-onset hypertension with exacerbation in pregnancy
ORPHA:88660: Pseudohyperaldosteronism type 2
ORPHA:88661: Amelogenesis imperfecta
ORPHA:88673: Hepatocellular carcinoma
ORPHA:88673: HCC
ORPHA:887: VACTERL/VATER association
ORPHA:887: VACTERL association
ORPHA:887: VATER association
ORPHA:887: Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association
ORPHA:888: Van der Woude syndrome
ORPHA:888: Cleft lip/palate with mucous cysts of lower lip
ORPHA:888: Lip-pit syndrome
ORPHA:888: VWS
ORPHA:889: Cutaneous small vessel vasculitis
ORPHA:889: Cutaneous hypersensitivity vasculitis
ORPHA:88917: X-linked Alport syndrome
ORPHA:88918: Autosomal dominant Alport syndrome
ORPHA:88919: Autosomal recessive Alport syndrome
ORPHA:88924: Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
ORPHA:88924: PKDTS
ORPHA:88924: TSC2/PKD1 contiguous gene syndrome
ORPHA:88924: Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome
ORPHA:88938: Pseudohypoaldosteronism type 2A
ORPHA:88938: PHA2A
ORPHA:88939: Pseudohypoaldosteronism type 2B
ORPHA:88939: PHA2B
ORPHA:88940: Pseudohypoaldosteronism type 2C
ORPHA:88940: PHA2C
ORPHA:88949: MUC1-related autosomal dominant tubulointerstitial kidney disease
ORPHA:88949: ADTKD-MUC1
ORPHA:88949: MCKD1
ORPHA:88949: MUC1-related medullary cystic kidney disease
ORPHA:88949: MUCI-related ADTKD
ORPHA:88949: Medullary cystic kidney disease type 1
ORPHA:88950: UMOD-related autosomal dominant tubulointerstitial kidney disease
ORPHA:88950: ADTKD-UMOD
ORPHA:88950: Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation
ORPHA:88950: Familial juvenile hyperuricemic nephropathy type 1
ORPHA:88950: MCKD2
ORPHA:88950: Medullary cystic kidney disease type 2
ORPHA:88950: UAKD
ORPHA:88950: UMOD kidney disease
ORPHA:88950: UMOD-related ADTKD
ORPHA:88950: Uromodulin-associated kidney disease
ORPHA:88991: Rare congenital non-syndromic heart malformation
ORPHA:88993: Esophageal malformation
ORPHA:890: Hepatic veno-occlusive disease
ORPHA:890: Sinusoidal obstruction syndrome
ORPHA:89043: Rare dementia
ORPHA:891: Familial exudative vitreoretinopathy
ORPHA:891: Criswick-Schepens syndrome
ORPHA:891: FEVR
ORPHA:892: Von Hippel-Lindau disease
ORPHA:892: Familial cerebelloretinal angiomatosis
ORPHA:892: Lindau disease
ORPHA:892: VHL
ORPHA:892: Von Hippel-Lindau syndrome
ORPHA:893: WAGR syndrome
ORPHA:893: Del(11)(p13)
ORPHA:893: Deletion 11p13
ORPHA:893: Monosomy 11p13
ORPHA:893: Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
ORPHA:894: Waardenburg syndrome type 1
ORPHA:894: WS1
ORPHA:894: Waardenburg syndrome type I
ORPHA:895: Waardenburg syndrome type 2
ORPHA:895: WS2
ORPHA:895: Waardenburg syndrome type II
ORPHA:896: Waardenburg syndrome type 3
ORPHA:896: Klein-Waardenburg syndrome
ORPHA:896: WS3
ORPHA:896: Waardenburg syndrome type III
ORPHA:896: Waardenburg syndrome with limb anomalies
ORPHA:897: Waardenburg-Shah syndrome
ORPHA:897: Shah-Waardenburg syndrome
ORPHA:897: WS4
ORPHA:897: Waardenburg syndrome type 4
ORPHA:897: Waardenburg-Hirschsprung syndrome
ORPHA:898: Wagner disease
ORPHA:898: Dominant hyaloideoretinal dystrophy of Wagner
ORPHA:898: VCAN-related vitreoretinopathy
ORPHA:898: Vitreoretinal degeneration, Wagner type
ORPHA:898: Wagner syndrome
ORPHA:89826: Rare skin disease
ORPHA:89838: Autosomal recessive generalized epidermolysis bullosa simplex
ORPHA:89838: Autosomal recessive generalized EBS
ORPHA:89842: Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
ORPHA:89842: Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
ORPHA:89842: Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
ORPHA:89842: Generalized RDEB, intermediate form
ORPHA:89842: RDEB, non-Hallopeau-Siemens type
ORPHA:89843: Dystrophic epidermolysis bullosa pruriginosa
ORPHA:89843: DEB pruriginosa
ORPHA:89843: DEB-Pr
ORPHA:89843: Pruriginous dystrophic epidermolysis bullosa
ORPHA:89844: Lissencephaly syndrome, Norman-Roberts type
ORPHA:89844: Microlissencephaly type A
ORPHA:899: Walker-Warburg syndrome
ORPHA:899: HARD syndrome
ORPHA:899: Hydrocephalus-agyria-retinal dysplasia syndrome
ORPHA:899: WWS
ORPHA:89936: X-linked hypophosphatemia
ORPHA:89936: X-linked hypophosphatemic rickets
ORPHA:89936: XLH
ORPHA:89937: Autosomal dominant hypophosphatemic rickets
ORPHA:89937: ADHR
ORPHA:89937: Autosomal dominant hypophosphatemia
ORPHA:89938: Bartter syndrome type 4
ORPHA:89938: Bartter syndrome type IV
ORPHA:89938: Bartter syndrome with sensorineural deafness
ORPHA:89938: Bartter syndrome with sensorineural hearing loss
ORPHA:9: Tetrasomy X syndrome
ORPHA:9: 48,XXXX syndrome
ORPHA:9: Quadruple X
ORPHA:9: Tetra X
ORPHA:90: Argininemia
ORPHA:90: Arginase deficiency
ORPHA:90: Hyperargininemia
ORPHA:900: Granulomatosis with polyangiitis
ORPHA:900: GPA
ORPHA:90000: Erythema elevatum diutinum
ORPHA:90001: X-linked cone dysfunction syndrome with myopia
ORPHA:90001: Bornholm eye disease
ORPHA:90002: Undifferentiated connective tissue syndrome
ORPHA:90002: UCTD
ORPHA:90003: Inflammatory pseudotumor of the liver
ORPHA:90020: Parkinson-dementia complex of Guam
ORPHA:90020: G-PDC
ORPHA:90020: Guam disease
ORPHA:90020: Guam parkinsonism-dementia complex
ORPHA:90020: Lytico-Bodig disease
ORPHA:90021: Radiation myelitis
ORPHA:90023: Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
ORPHA:90023: Primary immunodeficiency syndrome due to LAMTOR2 deficiency
ORPHA:90023: Primary immunodeficiency syndrome due to P14 deficiency
ORPHA:90023: Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency
ORPHA:90024: Deafness with labyrinthine aplasia, microtia, and microdontia
ORPHA:90024: Hearing loss with labyrinthine aplasia, microtia, and microdontia
ORPHA:90024: LAMM syndrome
ORPHA:90024: Microdontia-type I microtia-deafness syndrome
ORPHA:90024: Microdontia-type I microtia-hearing loss syndrome
ORPHA:90025: Non-syndromic syndactyly
ORPHA:90026: Primary erythromelalgia
ORPHA:90026: Primary erythermalgia
ORPHA:90030: Hemolytic anemia due to glutathione reductase deficiency
ORPHA:90031: Non-spherocytic hemolytic anemia due to hexokinase deficiency
ORPHA:90033: Autoimmune hemolytic anemia, warm type
ORPHA:90033: Warm AIHA
ORPHA:90033: wAHA
ORPHA:90033: wAIHA
ORPHA:90035: Paroxysmal cold hemoglobinuria
ORPHA:90035: Donath-Landsteiner hemolytic anemia
ORPHA:90035: Donath-Landsteiner syndrome
ORPHA:90035: PCH
ORPHA:90036: Mixed-type autoimmune hemolytic anemia
ORPHA:90036: Mixed AIHA
ORPHA:90037: Drug-induced autoimmune hemolytic anemia
ORPHA:90037: Drug-induced AIHA
ORPHA:90038: Shiga toxin-associated hemolytic uremic syndrome
ORPHA:90038: D+ HUS
ORPHA:90038: EHEC-HUS
ORPHA:90038: Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli
ORPHA:90038: Hemolytic uremic syndrome with diarrhea
ORPHA:90038: STEC-HUS
ORPHA:90038: Shiga-like toxin-associated HUS
ORPHA:90038: Stx-HUS
ORPHA:90038: Typical HUS
ORPHA:90038: Typical hemolytic uremic syndrome
ORPHA:90039: Hemoglobin D disease
ORPHA:90041: Gaisböck syndrome
ORPHA:90041: Stress erythrocytosis
ORPHA:90041: Stress polycythemia
ORPHA:90042: Primary familial polycythemia
ORPHA:90042: Congenital erythrocytosis due to erythropoietin receptor mutation
ORPHA:90042: Congenital polycythemia due to erythropoietin receptor mutation
ORPHA:90042: Familial erythrocytosis
ORPHA:90042: PFCP
ORPHA:90042: Primary congenital erythrocytosis
ORPHA:90042: Primary familial and congenital polycythemia
ORPHA:90044: Familial pseudohyperkalemia
ORPHA:90045: Hereditary folate malabsorption
ORPHA:90045: Congenital folate malabsorption
ORPHA:90050: Retinopathy of prematurity
ORPHA:90050: ROP
ORPHA:90050: Retrolental fibroplasia
ORPHA:90051: Sepsis in premature infants
ORPHA:90052: Recurrent hepatitis C virus induced liver disease in liver transplant recipients
ORPHA:90053: Complications after hematopoietic stem cell transplantation
ORPHA:90053: Complications after HSCT
ORPHA:90056: Moderate and severe traumatic brain injury
ORPHA:90058: Spinal cord injury
ORPHA:90059: Sudden sensorineural hearing loss
ORPHA:90059: Secondary acute sensorineural hearing loss
ORPHA:90060: Diffuse alveolar hemorrhage
ORPHA:90061: Non-infectious posterior uveitis
ORPHA:90061: Non-infectious choroiditis
ORPHA:90062: Acute liver failure
ORPHA:90062: Acute hepatic failure
ORPHA:90062: Fulminant hepatic failure
ORPHA:90064: Acute peripheral arterial occlusion
ORPHA:90065: Acquired aneurysmal subarachnoid hemorrhage
ORPHA:90066: Pneumonia caused by Pseudomonas aeruginosa infection
ORPHA:90068: Cocaine intoxication
ORPHA:90069: Systemic monochloroacetate poisoning
ORPHA:90073: Hepatitis B reinfection following liver transplantation
ORPHA:90076: Partial deep dermal and full thickness burns
ORPHA:90077: Other acquired skin disease
ORPHA:90078: Invasive infections due to vancomycin-resistant enterococci
ORPHA:90078: Invasive infections due to VRE
ORPHA:90080: Scarring in glaucoma filtration surgical procedures
ORPHA:90081: AIDS wasting syndrome
ORPHA:901: Wells syndrome
ORPHA:901: Eosinophilic cellulitis
ORPHA:90103: Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
ORPHA:90103: CMT-deafness-intellectual disability syndrome
ORPHA:90103: Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
ORPHA:90103: Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers
ORPHA:90103: Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers
ORPHA:90114: Autosomal dominant intermediate Charcot-Marie-Tooth disease
ORPHA:90114: CMTDI
ORPHA:90117: Hereditary motor and sensory neuropathy, Okinawa type
ORPHA:90117: HMSNP
ORPHA:90117: Hereditary motor and sensory neuropathy, proximal type
ORPHA:90118: Severe early-onset axonal neuropathy due to MFN2 deficiency
ORPHA:90118: AR-CMT2, Ouvrier type
ORPHA:90118: Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type
ORPHA:90118: SEOAN due to MFN2 deficiency
ORPHA:90119: Hereditary motor and sensory neuropathy with acrodystrophy
ORPHA:90119: AR-CMT2 with acrodystrophy
ORPHA:90119: Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy
ORPHA:90119: Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy
ORPHA:90119: HMSN with acrodystrophy
ORPHA:90120: Hereditary motor and sensory neuropathy type 6
ORPHA:90120: CMT6
ORPHA:90120: Charcot-Marie-Tooth disease type 6
ORPHA:90120: HMSN 6
ORPHA:90120: HMSN VI
ORPHA:90120: Hereditary motor and sensory neuropathy type VI
ORPHA:90120: Peripheral neuropathy and optic atrophy
ORPHA:90153: Mandibuloacral dysplasia with type A lipodystrophy
ORPHA:90153: MADA
ORPHA:90154: Mandibuloacral dysplasia with type B lipodystrophy
ORPHA:90156: Centrifugal lipodystrophy
ORPHA:90156: Lipodystrophia centrifugalis abdominalis infantilis
ORPHA:90157: Drug-induced localized lipodystrophy
ORPHA:90157: Lipoatrophy caused by injected drug
ORPHA:90158: Idiopathic localized lipodystrophy
ORPHA:90159: Panniculitis-induced localized lipodystrophy
ORPHA:90160: Pressure-induced localized lipoatrophy
ORPHA:90160: Lipoatrophia semicircularis
ORPHA:90160: Semicircular lipoatrophy
ORPHA:90186: Meige disease
ORPHA:90186: Hereditary lymphedema type II
ORPHA:90186: Meige lymphedema
ORPHA:902: Werner syndrome
ORPHA:902: Adult progeria
ORPHA:902: WS
ORPHA:90280: Chilblain lupus
ORPHA:90281: Discoid lupus erythematosus
ORPHA:90282: Hypertrophic or verrucous lupus erythematosus
ORPHA:90283: Lupus erythematosus tumidus
ORPHA:90283: Intermittent cutaneous lupus
ORPHA:90285: Lupus erythematosus panniculitis
ORPHA:90285: Lupus erythematosus profundus
ORPHA:90289: Localized scleroderma
ORPHA:90289: Localized fibrosing scleroderma
ORPHA:90291: Systemic sclerosis
ORPHA:90291: Systemic scleroderma
ORPHA:903: Von Willebrand disease
ORPHA:903: Hereditary pseudohaemophilia
ORPHA:903: Hereditary von Willebrand disease
ORPHA:90301: Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
ORPHA:90307: Parkes Weber syndrome
ORPHA:90308: Klippel-Trénaunay syndrome
ORPHA:90321: Cockayne syndrome type 1
ORPHA:90321: Cockayne syndrome type I
ORPHA:90322: Cockayne syndrome type 2
ORPHA:90322: Cockayne syndrome type II
ORPHA:90324: Cockayne syndrome type 3
ORPHA:90324: Cockayne syndrome type III
ORPHA:90340: Blau syndrome
ORPHA:90342: Xeroderma pigmentosum variant
ORPHA:90342: XPV
ORPHA:90348: Autosomal dominant cutis laxa
ORPHA:90348: ADCL
ORPHA:90349: Autosomal recessive cutis laxa type 1
ORPHA:90349: ARCL1
ORPHA:90349: Autosomal recessive cutis laxa with severe systemic involvement
ORPHA:90349: Autosomal recessive cutis laxa, pulmonary emphysema type
ORPHA:90350: Autosomal recessive cutis laxa type 2
ORPHA:90350: ARCL2
ORPHA:90350: Cutis laxa with joint laxity and developmental delay
ORPHA:90354: Brittle cornea syndrome
ORPHA:90354: Ehlers-Danlos syndrome type 6B
ORPHA:90362: Primary intestinal lymphangiectasia
ORPHA:90362: Waldmann disease
ORPHA:90363: Secondary intestinal lymphangiectasia