TaoMedAI/RareMedData huggingface dataset:
ORPHA:529665: Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
ORPHA:529665: GPAA1-related biosynthesis defect
ORPHA:529799: Acute bilirubin encephalopathy
ORPHA:529799: ABE
ORPHA:529799: Acute kernicterus
ORPHA:529808: Chronic bilirubin encephalopathy
ORPHA:529808: BIND
ORPHA:529808: Bilirubin-induced neurological dysfunction
ORPHA:529808: CBE
ORPHA:529808: KSD
ORPHA:529808: Kernicterus spectrum disorder
ORPHA:529831: Letrozole toxicity
ORPHA:529852: Combined hepatocellular carcinoma and cholangiocarcinoma
ORPHA:529852: Combined HCC-CC
ORPHA:529852: Combined hepatocellular-cholangiocarcinoma
ORPHA:529852: Hepatocholangiocarcinoma
ORPHA:529852: cHCC-CC
ORPHA:529864: Secondary erythromelalgia
ORPHA:529864: Secondary erythermalgia
ORPHA:52994: Orbital leiomyoma
ORPHA:529962: 17q24.2 microdeletion syndrome
ORPHA:529962: Del(17)(q24)
ORPHA:529965: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
ORPHA:529965: Pilarowski-Bjornsson syndrome
ORPHA:529970: Male infertility due to acephalic spermatozoa
ORPHA:529970: Acephalic spermatozoa syndrome
ORPHA:529974: Immune dysregulation with inflammatory bowel disease
ORPHA:529977: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
ORPHA:529980: Inflammatory bowel disease-recurrent sinopulmonary infections syndrome
ORPHA:529980: NFAT5 haploinsufficiency
ORPHA:53: Albers-Schönberg osteopetrosis
ORPHA:53: Osteopetrosis autosomal dominant type 2
ORPHA:530: Lipoid proteinosis
ORPHA:530: Hyalinosis cutis et mucosae
ORPHA:530: Urbach-Wiethe disease
ORPHA:530033: Dermoid or epidermoid cyst of the central nervous system
ORPHA:530033: Dermoid or epidermoid cyst of the CNS
ORPHA:530298: Progressive myoclonic epilepsy with neuroserpin inclusion bodies
ORPHA:530298: Early onset familial encephalopathy with neuroserpin inclusion bodies
ORPHA:530303: Progressive dementia with neuroserpin inclusion bodies
ORPHA:530303: Late-onset familial encephalopathy with neuroserpin inclusion bodies
ORPHA:530313: PIK3CA-related overgrowth syndrome
ORPHA:530313: PROS
ORPHA:53035: Caroli disease
ORPHA:530792: RELA fusion-positive ependymoma
ORPHA:530792: Supratentorial C11ORF95-RELA fused ependymoma
ORPHA:530838: KRT1-related diffuse nonepidermolytic keratoderma
ORPHA:530838: KRT1-related diffuse NEPPK
ORPHA:530849: Familial apolipoprotein A5 deficiency
ORPHA:530849: Familial APOA5 deficiency
ORPHA:530849: Familial apolipoprotein A-V deficiency
ORPHA:530983: Lamb-Shaffer syndrome
ORPHA:530983: SOX5 haploinsufficiency syndrome
ORPHA:530995: Mixed phenotype acute leukemia
ORPHA:530995: MPAL
ORPHA:531: Miller-Dieker syndrome
ORPHA:531: Lissencephaly due to 17p13.3 deletion
ORPHA:531: Monosomy 17p13.3
ORPHA:531: Telomeric deletion 17p
ORPHA:531151: 9q21.13 microdeletion syndrome
ORPHA:53271: Muenke syndrome
ORPHA:53296: Familial cutaneous collagenoma
ORPHA:533: Listeriosis
ORPHA:533: Listeria infection
ORPHA:53347: Brody myopathy
ORPHA:53351: X-linked dystonia-parkinsonism
ORPHA:53351: DYT3
ORPHA:53351: Lubag
ORPHA:53351: Lubag syndrome
ORPHA:53351: XDP
ORPHA:53372: Hereditary geniospasm
ORPHA:53372: Familial trembling of the chin
ORPHA:53372: Hereditary chin myoclonus
ORPHA:53372: Hereditary chin-trembling
ORPHA:534: Oculocerebrorenal syndrome of Lowe
ORPHA:534: Lowe disease
ORPHA:534: Lowe oculo-cerebro-renal dystrophy
ORPHA:534: Lowe oculo-cerebro-renal syndrome
ORPHA:534: Lowe oculocerebrorenal dystrophy
ORPHA:534: Lowe syndrome
ORPHA:534: OCRL
ORPHA:534: Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
ORPHA:535: Rare cutaneous lupus erythematosus
ORPHA:53540: Goldmann-Favre syndrome
ORPHA:53540: Enhanced S-cone syndrome
ORPHA:53540: Retinoschisis with early nyctalopia
ORPHA:535453: Familial lipase maturation factor 1 deficiency
ORPHA:535453: Familial LMF1 deficiency
ORPHA:535458: Familial GPIHBP1 deficiency
ORPHA:535458: Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency
ORPHA:53583: Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
ORPHA:53583: DYT9
ORPHA:53583: Episodic choreoathetosis/spasticity
ORPHA:536: Systemic lupus erythematosus
ORPHA:536: Disseminated lupus erythematosus
ORPHA:536: SLE
ORPHA:536391: RASopathy
ORPHA:536467: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
ORPHA:536467: B3GALT6-related spEDS
ORPHA:536467: B3GALT6-related spondylodysplastic EDS
ORPHA:536467: Beta3GalT6-deficient EDS
ORPHA:536467: Ehlers-Danlos syndrome progeroid type 2
ORPHA:536467: spEDS-B3GALT6
ORPHA:536471: Spondylodysplastic Ehlers-Danlos syndrome
ORPHA:536471: Spondylodysplastic EDS
ORPHA:536471: spEDS
ORPHA:536516: Myopathic Ehlers-Danlos syndrome
ORPHA:536516: EDS/myopathy overlap syndrome
ORPHA:536516: Myopathic EDS
ORPHA:536532: Classical-like Ehlers-Danlos syndrome type 2
ORPHA:536532: AEBP1-related EDS
ORPHA:536532: AEBP1-related Ehlers-Danlos syndrome
ORPHA:536532: Classical-like EDS type 2
ORPHA:536532: clEDS type 2
ORPHA:536545: Kyphoscoliotic Ehlers-Danlos syndrome
ORPHA:536545: EDS VI
ORPHA:536545: Ehlers-Danlos syndrome type 6
ORPHA:536545: Kyphoscoliotic EDS
ORPHA:536545: kEDS
ORPHA:53689: Congenital chloride diarrhea
ORPHA:53690: Congenital lactase deficiency
ORPHA:53691: Congenital cornea plana
ORPHA:53693: GRACILE syndrome
ORPHA:53693: Fellman disease
ORPHA:53693: Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
ORPHA:53696: Arthrogryposis-anterior horn cell disease syndrome
ORPHA:53696: AAHD
ORPHA:53696: Vuopala disease
ORPHA:53697: Gnathodiaphyseal dysplasia
ORPHA:53697: GDD
ORPHA:53698: Myosin storage myopathy
ORPHA:53698: Hyaline body myopathy
ORPHA:537: Toxic epidermal necrolysis
ORPHA:537: Lyell syndrome
ORPHA:537072: PLG-related hereditary angioedema with normal C1Inh
ORPHA:537072: PLG-related HAE with normal C1 inhibitor
ORPHA:53715: Familial tumoral calcinosis
ORPHA:53719: Wyburn-Mason syndrome
ORPHA:53719: Bonnet-Dechaume-Blanc syndrome
ORPHA:53719: CAMS2
ORPHA:53719: Cerebrofacial arteriovenous metameric syndrome type 2
ORPHA:53721: Spinal arteriovenous metameric syndrome
ORPHA:53721: Cobb syndrome
ORPHA:53721: Cutaneomeningospinal angiomatosis
ORPHA:53721: SAMS 1-31
ORPHA:53739: Distal hereditary motor neuropathy
ORPHA:53739: Distal spinal muscular atrophy
ORPHA:53739: dHMN
ORPHA:53739: dSMA
ORPHA:538: Lymphangioleiomyomatosis
ORPHA:538: LAM
ORPHA:538096: Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
ORPHA:538101: Congenital axonal neuropathy with encephalopathy
ORPHA:538238: Neurological channelopathy of the central nervous system due to a genetic chloride channel defect
ORPHA:538574: Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
ORPHA:538574: Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome
ORPHA:538756: Familial multiple discoid fibromas
ORPHA:538756: Familial multiple trichodiscomas
ORPHA:538863: Classic pyoderma gangrenosum
ORPHA:538863: Ulcerative pyoderma gangrenosum
ORPHA:538866: Pustular pyoderma gangrenosum
ORPHA:538869: Bullous pyoderma gangrenosum
ORPHA:538869: Phemphigoid pyoderma gangrenosum
ORPHA:538872: Vegetative pyoderma gangrenosum
ORPHA:538872: Granulomatous pyoderma gangrenosum
ORPHA:538931: X-linked lymphoproliferative disease due to SAP deficiency
ORPHA:538931: X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency
ORPHA:538931: X-linked lymphoproliferative disease due to SH2D1A deficiency
ORPHA:538931: X-linked lymphoproliferative disease due to Signaling lymphocyte activation molecule-associated protein deficiency
ORPHA:538931: X-linked lymphoproliferative syndrome type 1
ORPHA:538931: XLP1
ORPHA:538934: X-linked lymphoproliferative disease due to XIAP deficiency
ORPHA:538934: X-linked lymphoproliferative syndrome type 2
ORPHA:538934: XIAP deficiency syndrome
ORPHA:538934: XLP2
ORPHA:538958: Combined immunodeficiency due to CD70 deficiency
ORPHA:538958: CID due to CD70 deficiency
ORPHA:538963: Combined immunodeficiency due to ITK deficiency
ORPHA:538963: Autosomal recessive lymphoproliferative disease due to ITK deficiency
ORPHA:538963: ITK deficiency
ORPHA:54: X-linked recessive ocular albinism
ORPHA:54: OA1
ORPHA:54: Ocular albinism type 1
ORPHA:54: Ocular albinism, Nettleship-Falls type
ORPHA:54: XLOA
ORPHA:540: Familial hemophagocytic lymphohistiocytosis
ORPHA:540: Familial HLH
ORPHA:54028: Plummer-Vinson syndrome
ORPHA:54028: Kelly-Paterson syndrome
ORPHA:54028: Sideropenic dysphagia
ORPHA:54057: Thrombotic thrombocytopenic purpura
ORPHA:54057: Moschcowitz disease
ORPHA:54057: TTP
ORPHA:541: Primary cutaneous CD30+ T-cell lymphoproliferative disease
ORPHA:541: Primary cutaneous Ki-1+ T-cell lymphoproliferative disease
ORPHA:541423: Growth delay-intellectual disability-hepatopathy syndrome
ORPHA:541443: Anomalous aortic origin of the left coronary artery
ORPHA:541443: AOLCA
ORPHA:541443: L-ACAOS
ORPHA:541443: Left coronary artery from right aortic sinus
ORPHA:541454: Anomalous aortic origin of the right coronary artery
ORPHA:541454: AORCA
ORPHA:541454: R-ACAOS
ORPHA:541454: Right coronary artery from left aortic sinus
ORPHA:541478: Anomalous aortic origin of coronary artery
ORPHA:541478: AAOCA
ORPHA:541507: Anomalous origin of coronary artery from the pulmonary artery
ORPHA:541507: ACAPA
ORPHA:542: Primary cutaneous lymphoma
ORPHA:542301: Combined immunodeficiency due to CARMIL2 deficiency
ORPHA:542301: Combined immunodeficiency due to RLTPR deficiency
ORPHA:542306: GNB5-related intellectual disability-cardiac arrhythmia syndrome
ORPHA:542310: Leukoencephalopathy with calcifications and cysts
ORPHA:542310: LCC
ORPHA:542310: Labrune syndrome
ORPHA:542323: CAR T cell therapy-associated cytokine release syndrome
ORPHA:542323: CAR T cell therapy-associated CRS
ORPHA:542323: Chimeric antigen receptor-T cell therapy-associated cytokine release syndrome
ORPHA:54247: Posterior cortical atrophy
ORPHA:54247: Benson syndrome
ORPHA:54247: Biparietal Alzheimer disease
ORPHA:54247: PCA
ORPHA:54251: Aseptic abscess syndrome
ORPHA:54251: Aseptic abscesses syndrome
ORPHA:54251: Aseptic systemic abscesses
ORPHA:54251: Corticosteroid-sensitive aseptic abscess syndrome
ORPHA:54251: Disseminated aseptic abscesses
ORPHA:542568: Quadricuspid aortic valve
ORPHA:542585: Auditory neuropathy-optic atrophy syndrome
ORPHA:542592: Necrobiosis lipoidica
ORPHA:542592: Oppenheim-Urbach disease
ORPHA:54260: Left ventricular noncompaction
ORPHA:54260: LVNC
ORPHA:54260: Left ventricular hypertrabeculation
ORPHA:54260: Spongy myocardium
ORPHA:542643: Livedoid vasculopathy
ORPHA:542643: Livedo reticularis with summer ulcerations
ORPHA:542643: Milian atrophie blanche
ORPHA:542643: Segmental hyalinizing vasculitis
ORPHA:542657: Isolated hyperchlorhidrosis
ORPHA:542657: Carbonic anhydrase XII deficiency
ORPHA:54272: Hepatocellular adenoma
ORPHA:542822: Anomaly of the coronary ostia
ORPHA:543: Burkitt lymphoma
ORPHA:543: Small non-cleaved cell lymphoma
ORPHA:543470: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
ORPHA:54368: Sarcocystosis
ORPHA:54368: Sarcosporidiosis
ORPHA:54370: Primary membranoproliferative glomerulonephritis
ORPHA:54370: Mesangiocapillary glomerulonephritis
ORPHA:54370: Primary MPGN
ORPHA:544: Diffuse large B-cell lymphoma
ORPHA:544: DLBCL
ORPHA:544254: SYNGAP1-related developmental and epileptic encephalopathy
ORPHA:544254: SYNGAP1-related DEE
ORPHA:544458: Hemolytic uremic syndrome
ORPHA:544458: HUS
ORPHA:544469: PRUNE1-related neurological syndrome
ORPHA:544472: Atypical hemolytic uremic syndrome with complement gene abnormality
ORPHA:544472: Atypical HUS with complement gene abnormality
ORPHA:544472: aHUS with complement gene abnormality
ORPHA:544482: Infection-related hemolytic uremic syndrome
ORPHA:544482: Infection-related HUS
ORPHA:544488: Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
ORPHA:544488: Bachmann-Bupp syndrome
ORPHA:544488: Ornithine decarboxylase deficiency
ORPHA:544493: Streptococcus pneumoniae-associated hemolytic uremic syndrome
ORPHA:544493: S. pneumoniae-associated HUS
ORPHA:544493: SP-HUS
ORPHA:544503: RNF13-related severe early-onset epileptic encephalopathy
ORPHA:544503: RNF13-related severe EOEE
ORPHA:544578: Congenital primary megaureter, refluxing and obstructed form
ORPHA:544590: Collagen-related glomerular basement membrane disease
ORPHA:544602: Congenital myopathy with reduced type 2 muscle fibers
ORPHA:544602: Congenital myopathy with fast-twitch fiber atrophy
ORPHA:544602: Congenital myopathy with reduced type II muscle fibers
ORPHA:544602: Congenital myopathy with type 2 muscle fiber atrophy
ORPHA:544602: Congenital myopathy with type II fiber atrophy
ORPHA:544628: Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
ORPHA:545: Follicular lymphoma
ORPHA:54595: Craniopharyngioma
ORPHA:547: Non-Hodgkin lymphoma
ORPHA:547: NHL
ORPHA:548: Leprosy
ORPHA:549: Legionnaires disease
ORPHA:55: Oculocutaneous albinism
ORPHA:55: OCA
ORPHA:550: MELAS
ORPHA:550: Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
ORPHA:550: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
ORPHA:550: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
ORPHA:551: MERRF
ORPHA:551: Fukuhara syndrome
ORPHA:551: Myoclonus epilepsy associated with ragged-red fibres
ORPHA:552: MODY
ORPHA:552: Maturity-onset diabetes of the young
ORPHA:555402: NAD(P)HX dehydratase deficiency
ORPHA:555402: CARKD deficiency
ORPHA:555407: NAD(P)HX epimerase deficiency
ORPHA:555407: Apolipoprotein A-I binding protein deficiency
ORPHA:555434: Fibrohistiocytic inflammatory pseudotumor of the liver
ORPHA:555437: Lymphoplasmacytic inflammatory pseudotumor of the liver
ORPHA:555437: IgG4-related inflammatory pseudotumor of the liver
ORPHA:555874: Congenital tricuspid valve dysplasia
ORPHA:555877: FLNA-related X-linked myxomatous valvular dysplasia
ORPHA:555877: FLNA-related valvular dystrophy
ORPHA:555877: Filamin A-related X-linked myxomatous valvular dysplasia
ORPHA:555905: IgA pemphigus
ORPHA:55595: TNP03-related limb-girdle muscular dystrophy D2
ORPHA:55595: Autosomal dominant limb-girdle muscular dystrophy type 1F
ORPHA:55595: LGMD type 1F
ORPHA:55595: LGMD1F
ORPHA:55595: Limb-girdle muscular dystrophy type 1F
ORPHA:55596: HNRNPDL-related limb-girdle muscular dystrophy D3
ORPHA:55596: Autosomal dominant limb-girdle muscular dystrophy type 1G
ORPHA:55596: HNRNPDL-related LGMD D3
ORPHA:55596: LGMD type 1G
ORPHA:55596: LGMD1G
ORPHA:55596: Limb-girdle muscular dystrophy type 1G
ORPHA:556: Malakoplakia
ORPHA:556030: Early-onset familial hypoaldosteronism
ORPHA:556030: Early-onset familial hyperreninemic hypoaldosteronism
ORPHA:556030: Severe aldosterone synthase deficiency
ORPHA:556037: Late-onset familial hypoaldosteronism
ORPHA:556037: Late-onset familial hyperreninemic hypoaldosteronism
ORPHA:556037: Mild aldosterone synthase deficiency
ORPHA:556508: Rare disorder due to poisoning
ORPHA:55654: Hypotrichosis simplex
ORPHA:55654: Hereditary hypotrichosis simplex
ORPHA:55655: Pneumococcal meningitis
ORPHA:556955: Pancreatic agenesis-holoprosencephaly syndrome
ORPHA:556985: Early-onset calcifying leukoencephalopathy-skeletal dysplasia
ORPHA:557: Non-syndromic anorectal malformation
ORPHA:557: Non-syndromic ARM
ORPHA:557003: Oculoskeletodental syndrome
ORPHA:557003: Oculo-skeleto-dental syndrome
ORPHA:557056: Spastic ataxia-dysarthria due to glutaminase deficiency
ORPHA:557064: Neonatal epileptic encephalopathy due to glutaminase deficiency
ORPHA:557866: Rare disorder with Hirschsprung disease as a major feature
ORPHA:558: Marfan syndrome
ORPHA:558: MFS
ORPHA:558411: Idiopathic gastroparesis
ORPHA:55880: Chondrosarcoma
ORPHA:55881: Adamantinoma
ORPHA:55881: Adamantinoma of long bones
ORPHA:559: Marinesco-Sjögren syndrome
ORPHA:56: Alkaptonuria
ORPHA:56: Hereditary ochronosis
ORPHA:56: Homogentisic acid oxidase deficiency
ORPHA:560: Marshall syndrome
ORPHA:56044: Carcinoma of gallbladder and extrahepatic biliary tract
ORPHA:56044: Carcinoma of gallbladder and EBT
ORPHA:561: Marshall-Smith syndrome
ORPHA:561: Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome
ORPHA:561854: FOXG1 syndrome
ORPHA:561854: FOXG1-related epileptic-dyskinetic encephalopathy
ORPHA:562: McCune-Albright syndrome
ORPHA:562509: Heme oxygenase-1 deficiency
ORPHA:562509: HO-1 deficiency
ORPHA:562522: Prediction of response to monoclonal antibody treatment
ORPHA:562528: Congenital limbs-face contractures-hypotonia-developmental delay syndrome
ORPHA:562528: CLIFAHDD syndrome
ORPHA:562538: Autosomal recessive extra-oral halitosis
ORPHA:562538: MTO-deficiency
ORPHA:562538: Methanethiol oxidase deficiency
ORPHA:562559: Anterior maxillary protrusion-strabismus-intellectual disability syndrome
ORPHA:562559: MRAMS syndrome
ORPHA:562569: TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
ORPHA:562639: Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
ORPHA:562639: Overlap syndromes of autoimmune liver diseases
ORPHA:562639: PBC/PSC and AIH overlap syndrome
ORPHA:563: Peripartum cardiomyopathy
ORPHA:563: Postpartum cardiomyopathy
ORPHA:56304: Atelosteogenesis type II
ORPHA:56304: AO2
ORPHA:56304: AOII
ORPHA:56304: Atelosteogenesis type 2
ORPHA:56304: De la Chapelle dysplasia
ORPHA:56304: Neonatal osseous dysplasia type 1
ORPHA:56305: Atelosteogenesis type III
ORPHA:56305: AO3
ORPHA:56305: AOIII
ORPHA:56305: Atelosteogenesis type 3
ORPHA:563576: Autoimmune hepatitis type 1
ORPHA:563576: AIH type 1
ORPHA:563581: Autoimmune hepatitis type 2
ORPHA:563581: AIH type 2
ORPHA:563589: Seronegative autoimmune hepatitis
ORPHA:563589: Autoantibody-negative autoimmune hepatitis
ORPHA:563589: Seronegative AIH
ORPHA:563609: Isolated anencephaly
ORPHA:563612: Isolated exencephaly
ORPHA:563666: Serous cystadenoma of childhood
ORPHA:563666: Serous cystadenoma of ovary in childhood
ORPHA:563671: Mucinous cystadenoma of childhood
ORPHA:563671: Mucinous cystadenoma of ovary in childhood
ORPHA:563676: Seromucinous cystadenoma of childhood
ORPHA:563676: Seromucinous cystadenoma of ovary in childhood
ORPHA:563684: Furuncular myiasis due to Dermatobia hominis
ORPHA:563684: Furunculoid myiasis due to Dermatobia hominis
ORPHA:563684: Furunculous myiasis due to Dermatobia hominis
ORPHA:563687: Furuncular myiasis due to Cordylobia anthropophaga
ORPHA:563687: Furunculoid myiasis due to Cordylobia anthropophaga
ORPHA:563687: Furunculous myiasis due to Cordylobia anthropophaga
ORPHA:563690: Furuncular myiasis due to Cordylobia rodhaini
ORPHA:563690: Furunculoid myiasis due to Cordylobia rodhaini
ORPHA:563690: Furunculous myiasis due to Cordylobia rodhaini
ORPHA:563708: Syndromic congenital sodium diarrhea
ORPHA:563708: Syndromic congenital tufting enteropathy
ORPHA:563951: Isolated congenital aglossia
ORPHA:563954: Isolated congenital hypoglossia
ORPHA:563991: Osteochondrosis of the tarsal bone
ORPHA:563991: Aseptic necrosis of the tarsal bone
ORPHA:563991: Avascular necrosis of the tarsal bone
ORPHA:563991: Kohler disease
ORPHA:564: Meckel syndrome
ORPHA:564: Dysencephalia splanchnocystica
ORPHA:564: Meckel-Gruber syndrome
ORPHA:564003: Osteochondrosis of the metatarsal bone
ORPHA:564003: Avascular necrosis of the metatarsal bone
ORPHA:564003: Freiberg disease
ORPHA:564003: Freiberg infraction
ORPHA:564127: Genetic nephrotic syndrome
ORPHA:564127: Hereditary nephrotic syndrome
ORPHA:564178: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
ORPHA:56425: Cold agglutinin disease
ORPHA:56425: CAD
ORPHA:56425: CAS
ORPHA:56425: Chronic cold agglutinin disease
ORPHA:56425: Cold agglutinin syndrome
ORPHA:565: Menkes disease
ORPHA:565: MD
ORPHA:565: Menkes kinky hair disease
ORPHA:565: Menkes syndrome
ORPHA:565612: Primary triglyceride deposit cardiomyovasculopathy
ORPHA:565612: Neutral lipid storage disease with severe cardiovascular involvement
ORPHA:565612: TGCV
ORPHA:565624: Combined oxidative phosphorylation defect type 39
ORPHA:565624: COXPD39
ORPHA:565624: GFM2-related combined oxidative phosphorylation defect
ORPHA:565641: Primary desmosis coli
ORPHA:565641: Aplastic desmosis coli
ORPHA:565779: Rare disorder potentially indicated for transplant or complication after transplantation
ORPHA:565782: Methotrexate toxicity
ORPHA:565788: Infantile inflammatory bowel disease with neurological involvement
ORPHA:565837: Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23
ORPHA:565837: LGMD type R23
ORPHA:565837: Laminin subunit alpha 2-related LGMD R23
ORPHA:565837: Laminin subunit alpha 2-related late-onset muscular dystrophy
ORPHA:565858: Craniosynostosis-microretrognathia-severe intellectual disability syndrome
ORPHA:565899: POMGNT2-related limb-girdle muscular dystrophy R24
ORPHA:565899: LGMD type R24
ORPHA:565899: Limb-girdle muscular dystrophy type R24
ORPHA:565899: POMGNT2-related LGMD R24
ORPHA:565899: POMGNT2-related muscular dystrophy
ORPHA:565909: Calpain-3-related limb-girdle muscular dystrophy D4
ORPHA:565909: LGMD type D4
ORPHA:565909: LGMD1I
ORPHA:565909: Limb-girdle muscular dystrophy type D4
ORPHA:566: Congenital microcoria
ORPHA:566: Congenital miosis
ORPHA:566067: CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
ORPHA:566067: CAIN
ORPHA:566175: Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
ORPHA:566175: CD55 deficiency
ORPHA:566175: CHAPLE syndrome
ORPHA:566192: Congenital autosomal recessive small-platelet thrombocytopenia
ORPHA:566192: CARST
ORPHA:566231: Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
ORPHA:566231: RTHa
ORPHA:566231: Resistance to thyroid hormone alpha
ORPHA:566231: Resistance to thyroid hormone due to a mutation in TRa
ORPHA:566243: Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
ORPHA:566243: RTHb
ORPHA:566243: Resistance to thyroid hormone beta
ORPHA:566243: Resistance to thyroid hormone due to a mutation in TRb
ORPHA:566393: Acute mast cell leukemia
ORPHA:566393: Acute MCL
ORPHA:566396: Chronic mast cell leukemia
ORPHA:566396: Chronic MCL
ORPHA:566841: Liver adenomatosis
ORPHA:566841: Hepatic adenomatosis
ORPHA:566847: Aprosencephaly/atelencephaly spectrum
ORPHA:566847: AP/AT spectum
ORPHA:566852: Atelencephaly
ORPHA:566852: Atelencephalic microcephaly
ORPHA:566857: Aprosencephaly
ORPHA:566862: Left sided atrial isomerism
ORPHA:566862: Isomerism of left atrial appendage
ORPHA:566862: LAI
ORPHA:566943: Mueller-Weiss syndrome
ORPHA:566943: Brailsford disease
ORPHA:566943: Mueller-Weiss osteonecrosis of the tarsal bone
ORPHA:567: 22q11.2 deletion syndrome
ORPHA:567: 22q11DS
ORPHA:567: CATCH 22
ORPHA:567: Cayler cardiofacial syndrome
ORPHA:567: Conotruncal anomaly face syndrome
ORPHA:567: DiGeorge sequence
ORPHA:567: DiGeorge syndrome
ORPHA:567: Microdeletion 22q11.2
ORPHA:567: Monosomy 22q11
ORPHA:567: Sedlackova syndrome
ORPHA:567: Shprintzen syndrome
ORPHA:567: Takao syndrome
ORPHA:567: Velocardiofacial syndrome
ORPHA:567502: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
ORPHA:567502: BILU syndrome
ORPHA:567502: Hoffman syndrome
ORPHA:567544: Idiopathic non-lupus full-house nephropathy
ORPHA:567544: Idiopathic non-lupus FHN
ORPHA:567546: Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
ORPHA:567546: Idiopathic SSNS with secondary steroid resistance
ORPHA:567546: Secondary SRNS
ORPHA:567546: Secondary steroid-resistant nephrotic syndrome
ORPHA:567548: Idiopathic steroid-resistant nephrotic syndrome
ORPHA:567548: Idiopathic SRNS
ORPHA:567550: Idiopathic multidrug-resistant nephrotic syndrome
ORPHA:567552: Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy
ORPHA:567552: Idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression
ORPHA:567554: Systemic disease with glomerulopathy as a major feature
ORPHA:567556: Genetic systemic disease with glomerulopathy as a major feature
ORPHA:567558: Non-genetic systemic disease with glomerulopathy as a major feature
ORPHA:567560: Systemic vasculitis associated with glomerulopathy
ORPHA:567562: Disorder with multisystemic involvement and glomerulopathy