TaoMedAI/RareMedData huggingface dataset:
ORPHA:98988: Early-onset anterior subcapsular cataract
ORPHA:98989: Cerulean cataract
ORPHA:98989: Blue-dot cataract
ORPHA:98990: Coralliform cataract
ORPHA:98991: Early-onset nuclear cataract
ORPHA:98992: Early-onset partial cataract
ORPHA:98993: Early-onset posterior polar cataract
ORPHA:98994: Total early-onset cataract
ORPHA:98995: Early-onset zonular cataract
ORPHA:99: Autosomal dominant cerebellar ataxia
ORPHA:99: ADCA
ORPHA:99: Autosomal dominant spinocerebellar ataxia
ORPHA:990: Agnathia-holoprosencephaly-situs inversus syndrome
ORPHA:99000: Adult-onset foveomacular vitelliform dystrophy
ORPHA:99000: AOFMD
ORPHA:99000: AVMD
ORPHA:99000: Adult-onset foveomacular dystrophy
ORPHA:99000: Adult-onset foveomacular dystrophy with choroidal neovascularization
ORPHA:99000: Adult-onset vitelliform macular dystrophy
ORPHA:99000: Gass disease
ORPHA:99000: Pseudo-Best disease
ORPHA:99000: Pseudo-vitelliform macular dystrophy
ORPHA:99001: Butterfly-shaped pigment dystrophy
ORPHA:99001: Butterfly-shaped pattern dystrophy
ORPHA:99001: Butterfly-shaped pigmentary macular dystrophy
ORPHA:99002: Reticular dystrophy of the retinal pigment epithelium
ORPHA:99003: Multifocal pattern dystrophy simulating fundus flavimaculatus
ORPHA:99003: Multifocal pattern dystrophy simulating Stargardt disease
ORPHA:99004: Fundus pulverulentus
ORPHA:99013: Spastic paraplegia type 7
ORPHA:99013: SPG7
ORPHA:99014: X-linked Charcot-Marie-Tooth disease type 5
ORPHA:99014: CMT5X
ORPHA:99014: CMTX5
ORPHA:99015: Spastic paraplegia type 2
ORPHA:99015: SPG2
ORPHA:99015: Spastic gait type 2
ORPHA:99015: Spastic paraparesis type 2
ORPHA:99015: X-linked spastic paraplegia type 2
ORPHA:99027: Adult-onset autosomal dominant leukodystrophy
ORPHA:99027: ADLD
ORPHA:99027: Adult-onset autosomal dominant demyelinating leukodystrophy
ORPHA:99042: Congenitally uncorrected transposition of the great arteries with coarctation
ORPHA:99042: Congenitally uncorrected transposition of the great vessels with coarctation
ORPHA:99042: TGA with coarctation
ORPHA:99043: Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis
ORPHA:99043: DORV with subaortic or doubly committed VSD with pulmonary stenosis
ORPHA:99043: DORV, Fallot type
ORPHA:99043: Double outlet right ventricle, Fallot type
ORPHA:99045: Double outlet right ventricle with subpulmonary ventricular septal defect
ORPHA:99045: DORV with subpulmonary VSD
ORPHA:99045: DORV-TGA
ORPHA:99045: Double outlet right ventricle with transposition of the great arteries
ORPHA:99045: Taussig-Bing syndrome
ORPHA:99046: Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
ORPHA:99046: DORV with non-committed subpulmonary VSD
ORPHA:99048: Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
ORPHA:99048: APV/PDA, non-Fallot type
ORPHA:99049: Pulmonary artery coming from patent ductus arteriosus
ORPHA:99050: Abnormal origin of right or left pulmonary artery from the aorta
ORPHA:99050: Hemitruncus arteriosus
ORPHA:99050: Pulmonary artery coming from the aorta
ORPHA:99051: Discrete fixed membranous subaortic stenosis
ORPHA:99052: Discrete fibromuscular subaortic stenosis
ORPHA:99053: Tunnel subaortic stenosis
ORPHA:99054: Valvular pulmonary stenosis
ORPHA:99055: Congenital anomaly of the tricuspid valve chordae
ORPHA:99055: Congenital anomaly of tricuspid chordae tendineae
ORPHA:99055: Congenital anomaly of tricuspid tendinous chords
ORPHA:99056: Parachute tricuspid valve
ORPHA:99057: Congenital mitral stenosis
ORPHA:99058: Hypoplasia of the mitral valve annulus
ORPHA:99059: Congenital supravalvular mitral ring
ORPHA:99060: Congenital unguarded mitral orifice
ORPHA:99061: Accessory mitral valve tissue
ORPHA:99062: Mitral valve agenesis
ORPHA:99063: Shone complex
ORPHA:99064: Straddling and/or overriding mitral valve
ORPHA:99067: Complete atrioventricular septal defect with ventricular hypoplasia
ORPHA:99067: CAVC with ventricular hypoplasia
ORPHA:99067: Complete AVSD with ventricular hypoplasia
ORPHA:99067: Complete atrioventricular canal defect with ventricular hypoplasia
ORPHA:99067: Complete atrioventricular septal defect with ventricular imbalance
ORPHA:99067: Unbalanced complete atrioventricular canal
ORPHA:99068: Complete atrioventricular septal defect-tetralogy of Fallot
ORPHA:99068: CAVC-tetralogy of Fallot
ORPHA:99068: Complete AVSD-tetralogy of Fallot
ORPHA:99068: Complete atrioventricular canal defect-tetralogy of Fallot
ORPHA:99070: Aorto-right ventricular tunnel
ORPHA:99071: Aorto-left ventricular tunnel
ORPHA:99072: Congenital patent ductus arteriosus aneurysm
ORPHA:99075: Encircling double aortic arch
ORPHA:99076: Persistent fifth aortic arch
ORPHA:99077: Kommerell diverticulum
ORPHA:99078: Neuhauser anomaly
ORPHA:99079: Cervical aortic arch
ORPHA:99081: Right aortic arch
ORPHA:99082: Dysphagia lusoria
ORPHA:99083: Pulmonary artery hypoplasia
ORPHA:99083: PAH
ORPHA:99083: Unilateral Pulmonary Artery Hypoplasia
ORPHA:99084: Peripheral pulmonary stenosis
ORPHA:99084: Branch pulmonary artery stenosis
ORPHA:99084: Pulmonary branch stenosis
ORPHA:99087: Coronary ostial stenosis or atresia
ORPHA:99087: COSA
ORPHA:99087: Congenital coronary arterial orifice stenosis or atresia
ORPHA:99087: Congenital stenosis or atresia of a coronary ostium
ORPHA:99089: Abnormal number of coronary ostia
ORPHA:99090: Malposition of a coronary ostium
ORPHA:99092: Interventricular septum aneurysm
ORPHA:99094: Laubry-Pezzi syndrome
ORPHA:99094: VSD with aortic insufficiency
ORPHA:99094: Ventricular septal defect with aortic insufficiency
ORPHA:99095: Congenital Gerbode defect
ORPHA:99095: Left ventricular-to-right atrial communication
ORPHA:99098: Cor triatriatum dexter
ORPHA:99098: Cor triatriatum dextrum
ORPHA:99098: Divided right atrium
ORPHA:99099: Cor triatriatum sinister
ORPHA:99099: Cor triatriatum sinistrum
ORPHA:99099: Divided left atrium
ORPHA:991: PAGOD syndrome
ORPHA:991: Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome
ORPHA:99100: Juxtaposition of the atrial appendages
ORPHA:99100: Juxtaposition of the atrial auricles
ORPHA:99101: Ectasia of the right atrial appendage
ORPHA:99101: Dilatation of the right atrial appendage
ORPHA:99101: Dilatation of the right atrial auricle
ORPHA:99101: Ectasia of the right atrial auricle
ORPHA:99102: Ectasia of the left atrial appendage
ORPHA:99102: Dilatation of the left atrial appendage
ORPHA:99102: Dilatation of the left auricle
ORPHA:99102: Ectasia of the left auricle
ORPHA:99103: Atrial septal defect, ostium secundum type
ORPHA:99103: ASD, ostium secundum type
ORPHA:99104: Atrial septal defect, coronary sinus type
ORPHA:99104: ASD, coronary sinus type
ORPHA:99104: Unroofed coronary sinus
ORPHA:99105: Atrial septal defect, sinus venosus type
ORPHA:99105: ASD, sinus venosus type
ORPHA:99106: Atrial septal defect, ostium primum type
ORPHA:99106: ASD, ostium primum type
ORPHA:99107: Atrial septal aneurysm
ORPHA:99109: Persistent left superior vena cava connecting through coronary sinus to left-sided atrium
ORPHA:99109: Persistent left SVC connecting through coronary sinus to left-sided atrium
ORPHA:99110: Right superior vena cava connecting to left-sided atrium
ORPHA:99110: Right SVC connecting to left-sided atrium
ORPHA:99110: Right superior caval vein connecting to left-sided atrium
ORPHA:99111: Persistent left superior vena cava connecting to the roof of left-sided atrium
ORPHA:99111: Persistent left SVC connecting to left-sided atrium
ORPHA:99111: Persistent left SVC connecting to the roof of left-sided atrium
ORPHA:99111: Persistent left superior vena cava connecting to left-sided atrium
ORPHA:99112: Absence of innominate vein
ORPHA:99112: Absence of brachiocephalic vein
ORPHA:99113: Subaortic course of innominate vein
ORPHA:99113: Subaortic course of brachiocephalic vein
ORPHA:99114: Agenesis of the superior vena cava
ORPHA:99114: Absence of the SVC
ORPHA:99114: Absence of the superior caval vein
ORPHA:99114: Absence of the superior vena cava
ORPHA:99114: Agenesis of the SVC
ORPHA:99114: Agenesis of the superior caval vein
ORPHA:99117: Coronary sinus stenosis
ORPHA:99118: Coronary sinus atresia
ORPHA:99119: Right inferior vena cava connecting to left-sided atrium
ORPHA:99119: Right IVC connecting to left-sided atrium
ORPHA:99119: Right inferior caval vein connecting to left-sided atrium
ORPHA:99120: Persistent eustachian valve
ORPHA:99121: Azygos continuation of the inferior vena cava
ORPHA:99121: Azygos continuation of the IVC
ORPHA:99121: Azygos continuation of the inferior caval vein
ORPHA:99121: Inferior vena cava interruption with azygos continuation
ORPHA:99122: Congenital stenosis of the inferior vena cava
ORPHA:99122: Congenital stenosis of the IVC
ORPHA:99122: Congenital stenosis of the inferior caval vein
ORPHA:99123: Inferior vena cava interruption without azygos continuation
ORPHA:99123: IVC interruption
ORPHA:99123: Inferior caval vein interruption
ORPHA:99124: Congenital partial pulmonary venous return anomaly
ORPHA:99125: Congenital total pulmonary venous return anomaly
ORPHA:99126: Congenital pulmonary vein atresia
ORPHA:99126: CPVA
ORPHA:99126: Congenital PVA
ORPHA:99129: Congenital complete agenesis of pericardium
ORPHA:99130: Congenital partial agenesis of pericardium
ORPHA:99131: Pleuro-pericardial cyst
ORPHA:99135: 6-phosphogluconate dehydrogenase deficiency
ORPHA:99138: Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
ORPHA:99139: Unstable hemoglobin disease
ORPHA:99141: Lymphedema-posterior choanal atresia syndrome
ORPHA:99147: Acquired von Willebrand syndrome
ORPHA:99147: Acquired von Willebrand disease
ORPHA:99169: Epiblepharon
ORPHA:99170: Tarsal kink syndrome
ORPHA:99171: Isolated congenital ectropion
ORPHA:99172: Euryblepharon
ORPHA:99176: Congenital eyelid retraction
ORPHA:99177: Isolated distichiasis
ORPHA:99179: Kandori fleck retina
ORPHA:99226: Monosomy X syndrome
ORPHA:99228: Mosaic monosomy X syndrome
ORPHA:99324: Paternal uniparental disomy of chromosome 13 syndrome
ORPHA:99324: UPD(13)pat
ORPHA:99329: 48,XYYY syndrome
ORPHA:99330: 49,XYYYY syndrome
ORPHA:99361: Familial medullary thyroid carcinoma
ORPHA:99361: Familial MTC
ORPHA:994: Fetal akinesia deformation sequence
ORPHA:994: Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
ORPHA:994: FADS
ORPHA:994: Pena-Shokeir syndrome type 1
ORPHA:99408: Pituitary adenoma
ORPHA:99413: Turner syndrome due to structural X chromosome anomalies
ORPHA:99429: Complete androgen insensitivity syndrome
ORPHA:99429: CAIS
ORPHA:99429: Complete androgen resistance syndrome
ORPHA:99642: Spondyloepimetaphyseal dysplasia, Handigodu type
ORPHA:99646: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
ORPHA:99646: MC-HGA
ORPHA:99657: Primary dystonia, DYT2 type
ORPHA:99657: DYT2
ORPHA:99672: Fried's tooth and nail syndrome
ORPHA:99688: Dermotrichic syndrome
ORPHA:99701: Mesial temporal lobe epilepsy with hippocampal sclerosis
ORPHA:99701: HS-MTLE
ORPHA:99701: Hippocampal sclerosis-related mesial temporal lobe epilepsy
ORPHA:99701: MTLE-HS
ORPHA:99704: Early-onset obesity-hyperphagia-severe developmental delay syndrome
ORPHA:99704: OBHD
ORPHA:99710: Punctate acrokeratoderma freckle-like pigmentation
ORPHA:99718: Leber plus disease
ORPHA:99718: LHON plus disease
ORPHA:99725: Pituitary gigantism
ORPHA:99725: Hypophyseal gigantism
ORPHA:99725: Infantile and juvenile forms of acromegaly
ORPHA:99731: Isolated sulfite oxidase deficiency
ORPHA:99731: ISOD
ORPHA:99731: Sulfocysteinuria
ORPHA:99732: Sulfite oxidase deficiency due to molybdenum cofactor deficiency
ORPHA:99732: Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase
ORPHA:99732: MOCOD
ORPHA:99734: Myotonia fluctuans
ORPHA:99734: Exercise-induced delayed-onset myotonia
ORPHA:99734: Fluctuating myotonia
ORPHA:99735: Myotonia permanens
ORPHA:99736: Acetazolamide-responsive myotonia
ORPHA:99736: ACZ-responsive congenital myotonia
ORPHA:99736: ACZ-responsive myotonia
ORPHA:99736: Acetazolamide-responsive congenital myotonia
ORPHA:99736: Myotonia-painful contractions syndrome
ORPHA:99736: Painful congenital myotonia
ORPHA:99736: Painful myotonia
ORPHA:99739: Rare familial disorder with hypertrophic cardiomyopathy
ORPHA:99739: Rare familial disorder with hypertrophic obstructive cardiomyopathy
ORPHA:99739: Rare familial disorder with hypertrophic subaortic stenosis
ORPHA:99741: King-Denborough syndrome
ORPHA:99741: Koussef-Nichols syndrome
ORPHA:99742: Amish lethal microcephaly
ORPHA:99745: Typhoid
ORPHA:99745: Typhoid fever
ORPHA:99745: Typhoidal salmonellosis
ORPHA:99748: Pontiac fever
ORPHA:99748: Non-pneumonic Legionnaires' disease
ORPHA:99749: Kostmann syndrome
ORPHA:99749: Infantile agranulocytosis
ORPHA:99749: Severe congenital neutropenia type 3
ORPHA:99750: Atypical progressive supranuclear palsy syndrome
ORPHA:99750: Atypical PSP syndrome
ORPHA:99756: Alveolar rhabdomyosarcoma
ORPHA:99757: Embryonal rhabdomyosarcoma
ORPHA:99771: Bifid uvula
ORPHA:99771: Bifidity of the uvula
ORPHA:99771: Uvular cleft
ORPHA:99772: Cleft velum
ORPHA:99772: Cleft soft palate
ORPHA:99772: Cleft velum palatinum
ORPHA:99776: Mosaic trisomy 9 syndrome
ORPHA:99776: Mosaic trisomy chromosome 9
ORPHA:99776: Trisomy 9 mosaicism
ORPHA:99789: Dentin dysplasia type I
ORPHA:99789: DD-I
ORPHA:99789: DTDP1
ORPHA:99789: Radicular dentin dysplasia
ORPHA:99791: Dentin dysplasia type II
ORPHA:99791: DD-II
ORPHA:99791: DTDP2
ORPHA:99792: Dentin dysplasia-sclerotic bones syndrome
ORPHA:99796: Subcortical band heterotopia
ORPHA:99796: Subcortical laminar heterotopia
ORPHA:99797: Anodontia
ORPHA:99798: Oligodontia
ORPHA:99798: Selective tooth agenesis
ORPHA:998: Albinism-deafness syndrome
ORPHA:998: Albinism-hearing loss syndrome
ORPHA:99802: Hemimegalencephaly
ORPHA:99802: Unilateral megalencephaly
ORPHA:99803: Haddad syndrome
ORPHA:99803: Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
ORPHA:99803: Ondine-Hirschsprung disease
ORPHA:99803: Ondine-Hirschsprung syndrome
ORPHA:99806: Oculootodental syndrome
ORPHA:99806: OOD
ORPHA:99807: PEHO-like syndrome
ORPHA:99810: Familial porencephaly
ORPHA:99811: Neuronal intestinal pseudoobstruction
ORPHA:99812: LIG4 syndrome
ORPHA:99812: DNA ligase IV deficiency
ORPHA:99812: Ligase 4 syndrome
ORPHA:99818: Turcot syndrome with polyposis
ORPHA:99819: Familial gestational hyperthyroidism
ORPHA:99824: Lassa fever
ORPHA:99824: LF
ORPHA:99824: Lassa hemorrhagic fever
ORPHA:99825: Nipah virus disease
ORPHA:99825: Nipah encephalitis
ORPHA:99825: Nipah fever
ORPHA:99826: Marburg hemorrhagic fever
ORPHA:99826: Green monkey disease
ORPHA:99826: MHF
ORPHA:99826: Marburg virus disease
ORPHA:99827: Crimean-Congo hemorrhagic fever
ORPHA:99827: CCHF
ORPHA:99827: Congo fever
ORPHA:99827: Congo hemorrhagic fever
ORPHA:99827: Crimean hemorrhagic fever
ORPHA:99828: Dengue fever
ORPHA:99828: DF
ORPHA:99828: Dengue virus infection
ORPHA:99829: Yellow fever
ORPHA:99829: Bronze John
ORPHA:99829: YF
ORPHA:99829: Yellow Jack
ORPHA:99832: Resistance to thyrotropin-releasing hormone syndrome
ORPHA:99832: Central hypothyroidism due to TRH receptor deficiency
ORPHA:99832: TRH resistance syndrome
ORPHA:99842: Leukocyte adhesion deficiency type I
ORPHA:99842: LAD-I
ORPHA:99843: Leukocyte adhesion deficiency type II
ORPHA:99843: CDG syndrome type IIc
ORPHA:99843: CDG-IIc
ORPHA:99843: CDG2C
ORPHA:99843: LAD-II
ORPHA:99843: Rambam-Hasharon syndrome
ORPHA:99843: SLC35C1-CDG
ORPHA:99844: Leukocyte adhesion deficiency type III
ORPHA:99844: LAD-1 variant
ORPHA:99844: LAD-III
ORPHA:99844: Leukocyte adhesion deficiency-1 variant
ORPHA:99845: Genetic recurrent myoglobinuria
ORPHA:99846: Autosomal dominant myoglobinuria
ORPHA:99849: Glycogen storage disease due to muscle beta-enolase deficiency
ORPHA:99849: GSD due to muscle beta-enolase deficiency
ORPHA:99849: GSDXIII
ORPHA:99849: Glycogenosis due to muscle beta-enolase deficiency
ORPHA:99849: Glycogenosis type 13
ORPHA:99849: Muscle enolase deficiency
ORPHA:99849: Muscular enolase deficiency
ORPHA:99852: Ravine syndrome
ORPHA:99852: Progressive encephalopathy with severe infantile anorexia
ORPHA:99852: Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome
ORPHA:99853: Ovarioleukodystrophy
ORPHA:99854: Cree leukoencephalopathy
ORPHA:99856: Primary syringomyelia
ORPHA:99856: Congenital syringomyelia
ORPHA:99857: Secondary syringomyelia
ORPHA:99858: Idiopathic syringomyelia
ORPHA:99860: Precursor B-cell acute lymphoblastic leukemia
ORPHA:99860: B-ALL
ORPHA:99860: Precursor B-cell acute lymphoblastic leukemia/lymphoma
ORPHA:99860: Precursor B-cell acute lymphocytic leukemia
ORPHA:99860: Precursor B-cell acute lymphocytic leukemia/lymphoma
ORPHA:99861: Precursor T-cell acute lymphoblastic leukemia
ORPHA:99861: Precursor T-cell acute lymphoblastic leukemia/lymphoma
ORPHA:99861: Precursor T-cell acute lymphocytic leukemia
ORPHA:99861: Precursor T-cell acute lymphocytic leukemia/lymphoma
ORPHA:99861: T-ALL
ORPHA:99865: Spermatocytic seminoma
ORPHA:99867: Thymoma
ORPHA:99867: Primary thymic epithelial neoplasm
ORPHA:99867: Primary thymic epithelial tumor
ORPHA:99868: Thymic carcinoma
ORPHA:99868: Malignant thymoma
ORPHA:99869: Thymic neuroendocrine carcinoma
ORPHA:99879: Familial isolated hyperparathyroidism
ORPHA:99879: FIHPT
ORPHA:99880: Hyperparathyroidism-jaw tumor syndrome
ORPHA:99880: HPT-JT
ORPHA:99885: Isolated permanent neonatal diabetes mellitus
ORPHA:99885: Isolated PNDM
ORPHA:99885: Monogenic diabetes of infancy
ORPHA:99886: Transient neonatal diabetes mellitus
ORPHA:99886: TNDM
ORPHA:99887: Acute megakaryoblastic leukemia in children with Down syndrome
ORPHA:99887: Acute megakaryoblastic leukemia in children with trisomy 21
ORPHA:99887: DS-AMKL in children with Down syndrome
ORPHA:99887: DS-AMKL in children with trisomy 21
ORPHA:99889: Cushing syndrome due to ectopic ACTH secretion
ORPHA:99889: Adrenocorticotropic hormone secretion syndrome
ORPHA:99889: Ectopic ACTH secreting tumor
ORPHA:99889: Ectopic Cushing syndrome
ORPHA:99889: Occult ectopic ACTH secretion
ORPHA:99889: Paraneoplastic Cushing syndrome
ORPHA:99892: ACTH-dependent Cushing syndrome
ORPHA:99892: ACTH-dependent CS
ORPHA:99892: Adrenocorticotropic hormone-dependent Cushing syndrome
ORPHA:99892: Corticotropin-dependent Cushing syndrome
ORPHA:99898: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
ORPHA:99898: MSMD due to complete IFNgammaR1 deficiency
ORPHA:99898: MSMD due to complete interferon gamma receptor 1 deficiency
ORPHA:99898: Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency
ORPHA:999: Ermine phenotype
ORPHA:999: O'Doherty syndrome
ORPHA:999: Pigmentary disorder with deafness
ORPHA:999: Pigmentary disorder with hearing loss
ORPHA:99901: Acyl-CoA dehydrogenase 9 deficiency
ORPHA:99901: ACAD9 deficiency
ORPHA:99903: Spirillary rat-bite fever
ORPHA:99903: Sodoku
ORPHA:99905: Streptobacillary rat-bite fever
ORPHA:99912: Ovarian dysgerminoma
ORPHA:99912: Dysgerminoma of ovary
ORPHA:99912: Dysgerminomatous germ cell cancer of the ovary
ORPHA:99913: Extragonadal non-dysgerminomatous germ cell tumor
ORPHA:99914: Gynandroblastoma
ORPHA:99915: Malignant granulosa cell tumor of the ovary
ORPHA:99915: Granulosa cell cancer
ORPHA:99915: Granulosa cell malignant tumor
ORPHA:99916: Malignant Sertoli-Leydig cell tumor of the ovary
ORPHA:99916: Androblastoma
ORPHA:99916: Arrhenoblastoma
ORPHA:99916: Ovarian Sertoli-Leydig cell cancer
ORPHA:99916: Ovarian malignant Sertoli-Leydig cell tumor
ORPHA:99916: Virilizing ovarian tumor
ORPHA:99917: Theca steroid-producing cell malignant tumor of ovary, not further specified
ORPHA:99917: Theca (steroid-producing) cell cancer, not further specified
ORPHA:99918: Streptococcal toxic-shock syndrome
ORPHA:99918: Streptococcal TSS
ORPHA:99919: Staphylococcal toxic-shock syndrome
ORPHA:99919: Staphylococcal TSS
ORPHA:99920: Acute graft versus host disease
ORPHA:99921: Chronic graft versus host disease
ORPHA:99922: Ocular cicatricial pemphigoid
ORPHA:99925: Invasive mole
ORPHA:99926: Gestational choriocarcinoma
ORPHA:99927: Hydatidiform mole
ORPHA:99927: Molar pregnancy
ORPHA:99928: Placental site trophoblastic tumor
ORPHA:99928: PSST
ORPHA:99930: Secondary pulmonary hemosiderosis
ORPHA:99931: Idiopathic pulmonary hemosiderosis
ORPHA:99932: Heiner syndrome
ORPHA:99932: Cow's milk hypersensitivity
ORPHA:99933: Pleuropulmonary blastoma type 1
ORPHA:99934: Pleuropulmonary blastoma type 2
ORPHA:99935: Pleuropulmonary blastoma type 3
ORPHA:99936: Autosomal dominant Charcot-Marie-Tooth disease type 2B
ORPHA:99936: CMT2B
ORPHA:99937: Autosomal dominant Charcot-Marie-Tooth disease type 2C
ORPHA:99937: CMT2C
ORPHA:99938: Autosomal dominant Charcot-Marie-Tooth disease type 2D
ORPHA:99938: CMT2D
ORPHA:99939: Autosomal dominant Charcot-Marie-Tooth disease type 2E
ORPHA:99939: CMT2E
ORPHA:99940: Autosomal dominant Charcot-Marie-Tooth disease type 2F
ORPHA:99940: CMT2F
ORPHA:99941: Autosomal dominant Charcot-Marie-Tooth disease type 2G
ORPHA:99941: CMT2G
ORPHA:99942: Autosomal dominant Charcot-Marie-Tooth disease type 2I
ORPHA:99942: CMT2I
ORPHA:99943: Autosomal dominant Charcot-Marie-Tooth disease type 2J
ORPHA:99943: CMT2J
ORPHA:99944: Autosomal dominant Charcot-Marie-Tooth disease type 2K
ORPHA:99944: CMT2K
ORPHA:99945: Autosomal dominant Charcot-Marie-Tooth disease type 2L
ORPHA:99945: CMT2L
ORPHA:99946: Autosomal dominant Charcot-Marie-Tooth disease type 2A1
ORPHA:99946: CMT2A1
ORPHA:99947: Autosomal dominant Charcot-Marie-Tooth disease type 2A2
ORPHA:99947: CMT2A2
ORPHA:99948: Charcot-Marie-Tooth disease type 4A
ORPHA:99948: CMT4A
ORPHA:99949: Charcot-Marie-Tooth disease type 4C
ORPHA:99949: CMT4C
ORPHA:99950: Charcot-Marie-Tooth disease type 4D
ORPHA:99950: CMT4D
ORPHA:99950: HMSN, Lom type
ORPHA:99950: HMSN-Lom
ORPHA:99950: Hereditary motor and sensory neuropathy, Lom type
ORPHA:99951: Charcot-Marie-Tooth disease type 4E
ORPHA:99951: Autosomal recessive congenital hypomyelinating neuropathy
ORPHA:99951: CMT4E
ORPHA:99952: Charcot-Marie-Tooth disease type 4F
ORPHA:99952: CMT4F
ORPHA:99953: Charcot-Marie-Tooth disease type 4G
ORPHA:99953: CMT4G
ORPHA:99953: HMSNR
ORPHA:99953: Hereditary motor and sensory neuropathy, Russe Type
ORPHA:99954: Charcot-Marie-Tooth disease type 4H
ORPHA:99954: CMT4H
ORPHA:99955: Charcot-Marie-Tooth disease type 4B1
ORPHA:99955: CMT4B1
ORPHA:99956: Charcot-Marie-Tooth disease type 4B2
ORPHA:99956: CMT4B2
ORPHA:99960: Benign recurrent intrahepatic cholestasis type 1
ORPHA:99960: BRIC type 1
ORPHA:99960: BRIC1
ORPHA:99961: Benign recurrent intrahepatic cholestasis type 2
ORPHA:99961: BRIC type 2
ORPHA:99961: BRIC2
ORPHA:99965: O'Sullivan-McLeod syndrome
ORPHA:99966: Atypical teratoid rhabdoid tumor
ORPHA:99966: ATRT
ORPHA:99967: Myxoid/round cell liposarcoma
ORPHA:99967: MRCLS
ORPHA:99969: Pleomorphic liposarcoma
ORPHA:99969: PLS
ORPHA:99970: Dedifferentiated liposarcoma
ORPHA:99970: DDLS
ORPHA:99971: Well-differentiated liposarcoma
ORPHA:99971: ALT
ORPHA:99971: Atypical lipoma
ORPHA:99971: Atypical lipomatous tumor
ORPHA:99971: WDLS
ORPHA:99976: Adenocarcinoma of the esophagus
ORPHA:99976: Esophageal adenocarcinoma
ORPHA:99977: Squamous cell carcinoma of the esophagus
ORPHA:99977: ESCC
ORPHA:99977: Esophageal epidermoid carcinoma
ORPHA:99977: Esophageal squamous cell carcinoma
ORPHA:99978: Klatskin tumor
ORPHA:99978: Hilar CCA
ORPHA:99978: Hilar cholangiocarcinoma
ORPHA:99981: Apnea of prematurity
ORPHA:99983: Cutaneous myiasis
ORPHA:99989: Intermediate DEND syndrome
ORPHA:99989: Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form
ORPHA:99990: Brill-Zinsser disease
ORPHA:99990: Brill disease
ORPHA:99990: Recrudescent typhus
ORPHA:99991: Relapsing epidemic typhus
ORPHA:99994: Complex regional pain syndrome type 2
ORPHA:99994: Causalgia
ORPHA:99995: Complex regional pain syndrome type 1
ORPHA:99995: Algodystrophy
ORPHA:99995: Reflex sympathetic dystrophy