TaoMedAI/RareMedData huggingface dataset:
ORPHA:60039: Pudendalgia
ORPHA:60040: Megalencephaly-capillary malformation-polymicrogyria syndrome
ORPHA:60040: MCAP
ORPHA:60040: MCM
ORPHA:60040: MCMTC
ORPHA:60040: Macrocephaly-capillary malformation syndrome
ORPHA:60040: Macrocephaly-cutis marmorata telangiectatica congenita syndrome
ORPHA:60040: Megalencephaly-capillary malformation syndrome
ORPHA:60040: Megalencephaly-cutis marmorata telangiectatica congenita syndrome
ORPHA:60041: Congenital heart block
ORPHA:60041: Congenital atrioventricular block
ORPHA:600663: NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
ORPHA:600668: CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
ORPHA:600691: Combined deficiency of factor VII and factor X
ORPHA:600731: Clark-Baraitser syndrome
ORPHA:600832: Legionella infection
ORPHA:600832: Legionellosis
ORPHA:600952: Non-syndromic anorectal malformation with perineal fistula
ORPHA:600952: Non-syndromic ARM with cutaneous fistula
ORPHA:600952: Non-syndromic ARM with perineal fistula
ORPHA:600952: Non-syndromic anorectal malformation with cutaneous fistula
ORPHA:600961: Non-syndromic anorectal malformation with rectourethral fistula
ORPHA:600961: Non-syndromic ARM with rectourethral fistula
ORPHA:600966: Non-syndromic anorectal malformation with rectourethral fistula, bulbar type
ORPHA:600966: Non-syndromic ARM with rectobulbar fistula
ORPHA:600966: Non-syndromic ARM with rectourethral fistula, bulbar type
ORPHA:600966: Non-syndromic anorectal malformation with rectobulbar fistula
ORPHA:600975: Non-syndromic anorectal malformation with rectourethral fistula, prostatic type
ORPHA:600975: Non-syndromic ARM with rectoprostatic fistula
ORPHA:600975: Non-syndromic ARM with rectourethral fistula, prostatic type
ORPHA:600975: Non-syndromic anorectal malformation with rectoprostatic fistula
ORPHA:600984: Non-syndromic anorectal malformation with rectovesical fistula
ORPHA:600984: Non-syndromic ARM with bladder neck fistula
ORPHA:600984: Non-syndromic ARM with rectovesical fistula
ORPHA:600984: Non-syndromic anorectal malformation with bladder neck fistula
ORPHA:600993: Non-syndromic anorectal malformation with vestibular fistula
ORPHA:600993: Non-syndromic ARM with vestibular fistula
ORPHA:600998: Non-syndromic cloacal malformation
ORPHA:601002: Non-syndromic anorectal malformation without fistula
ORPHA:601002: Non-syndromic ARM without fistula
ORPHA:601002: Non-syndromic anorectal malformation with no fistula
ORPHA:601008: Non-syndromic anorectal malformation with anal stenosis
ORPHA:601008: Non-syndromic ARM with anal stenosis
ORPHA:601013: Non-syndromic anorectal malformation with pouch colon
ORPHA:601013: Non-syndromic ARM with pouch colon
ORPHA:601018: Non-syndromic anorectal malformation with rectal atresia
ORPHA:601018: Non-syndromic ARM with rectal atresia
ORPHA:601023: Non-syndromic anorectal malformation with rectal stenosis
ORPHA:601023: Non-syndromic ARM with rectal stenosis
ORPHA:601028: Non-syndromic anorectal malformation with rectovaginal fistula
ORPHA:601028: Non-syndromic ARM with rectovaginal fistula
ORPHA:601033: Non-syndromic anorectal malformation with H-type fistula
ORPHA:601033: Non-syndromic ARM with H-type fistula
ORPHA:602: GNE myopathy
ORPHA:602: DMRV
ORPHA:602: Distal myopathy with rimmed vacuoles
ORPHA:602: Distal myopathy, Nonaka type
ORPHA:602: HIBM2
ORPHA:602: Hereditary inclusion body myopathy type 2
ORPHA:602: IBM2
ORPHA:602: Inclusion body myopathy type 2
ORPHA:602: Nonaka myopathy
ORPHA:602: Quadriceps-sparing myopathy
ORPHA:603: Distal myopathy, Welander type
ORPHA:603: WDM
ORPHA:603448: Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
ORPHA:603448: CIMDAG syndrome
ORPHA:603494: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
ORPHA:603494: COMMAD syndrome
ORPHA:603515: Isolated female hypospadias
ORPHA:603684: KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
ORPHA:603684: PERCHING syndrome
ORPHA:603689: KLHL7-related Bohring-Opitz-like syndrome
ORPHA:603689: KLHL7-related BOS-like syndrome
ORPHA:603694: KLHL7-related Crisponi/cold-induced sweating-like syndrome
ORPHA:603694: KLHL7-related Crisponi-like syndrome
ORPHA:603699: Recessive KLHL7-related disorder
ORPHA:604680: Symptomatic form of X-linked centronuclear myopathy in female carriers
ORPHA:604680: Symptomatic form of X-linked myotubular myopathy in female carriers
ORPHA:604680: Symptomatic form of XLCNM in female carriers
ORPHA:604680: Symptomatic form of XLMTM in female carriers
ORPHA:606: Proximal myotonic myopathy
ORPHA:606: Myotonic dystrophy type 2
ORPHA:606: Proximal myotonic dystrophy
ORPHA:606: Ricker disease
ORPHA:606: Ricker syndrome
ORPHA:607: Nemaline myopathy
ORPHA:607: NEM
ORPHA:607: NM
ORPHA:607: Nemaline rod myopathy
ORPHA:609: Tibial muscular dystrophy
ORPHA:609: Distal myopathy, Udd type
ORPHA:609: Distal titinopathy
ORPHA:609: Finnish tibial muscular dystrophy
ORPHA:609: TMD
ORPHA:609: Udd myopathy
ORPHA:61: Alpha-mannosidosis
ORPHA:61: Lysosomal alpha-D-mannosidase deficiency
ORPHA:610: Bethlem muscular dystrophy
ORPHA:610: Bethlem myopathy
ORPHA:610: LGMD D5 collagen 6-related dystrophy
ORPHA:610: LGMD D5 collagen VI-related dystrophy
ORPHA:610: LGMD R22 collagen 6-related dystrophy
ORPHA:610: LGMD R22 collagen VI-related dystrophy
ORPHA:610: Mild form of COL6-related dystrophy
ORPHA:610: Mild form of collagen VI-related dystrophy
ORPHA:610569: KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
ORPHA:610569: Alkuraya-Kucinskas syndrome
ORPHA:610573: CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
ORPHA:611: Inclusion body myositis
ORPHA:611: IBM
ORPHA:611: Sporadic inclusion body myositis
ORPHA:611: sIBM
ORPHA:611201: Oculogastrointestinal-neurodevelopmental syndrome
ORPHA:611201: OGIN Syndrome
ORPHA:611207: Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
ORPHA:611207: SHILCA syndrome
ORPHA:611216: Aplastic anemia-intellectual disability-dwarfism syndrome
ORPHA:611216: AMeD syndrome
ORPHA:611223: EN1-related dorsoventral syndrome
ORPHA:611223: ENDOVE syndrome
ORPHA:611223: ENDOVES
ORPHA:611237: Parkinsonism with polyneuropathy
ORPHA:611247: Pontocerebellar hypoplasia type 11
ORPHA:611247: PCH11
ORPHA:611247: Pontocerebellar hypoplasia due to TBC1D23
ORPHA:611256: Pontocerebellar hypoplasia type 12
ORPHA:611256: COASY-related pontocerebellar hypoplasia
ORPHA:611256: PCH12
ORPHA:611314: Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
ORPHA:611327: Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
ORPHA:611327: Genetic multiple congenital anomalies-intellectual disability with or without dysmorphism
ORPHA:612: Potassium-aggravated myotonia
ORPHA:612: K+-aggravated myotonia
ORPHA:612: K-aggravated myotonia
ORPHA:612: PAM
ORPHA:613267: Pontocerebellar hypoplasia type 13
ORPHA:613267: PCH13
ORPHA:613274: Pontocerebellar hypoplasia type 14
ORPHA:613274: PCH14
ORPHA:614: Thomsen and Becker disease
ORPHA:614: Myotonia congenita
ORPHA:615: Familial atrial myxoma
ORPHA:615938: Spastic paraparesis-cataracts-speech delay syndrome
ORPHA:615938: Fatty acyl-CoA reductase 1 superactivity
ORPHA:615943: Granuloma faciale
ORPHA:615943: Facial granuloma of Lever
ORPHA:615943: Granuloma of Lever
ORPHA:615954: Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
ORPHA:615954: Fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome
ORPHA:615954: Fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
ORPHA:615964: Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
ORPHA:615964: Acute reversible leukoencephalopathy due to SLC13A3 deficiency
ORPHA:615964: Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency
ORPHA:615970: Chronic intervillositis of unknown etiology
ORPHA:615970: CIUE
ORPHA:615983: Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
ORPHA:615986: Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
ORPHA:615986: Lethal 1p36.33 deletion syndrome
ORPHA:616: Medulloblastoma
ORPHA:616874: Rare disorder without a determined diagnosis after full investigation
ORPHA:616874: Fully investigated rare disorder without a determined diagnosis
ORPHA:617: Congenital primary megaureter
ORPHA:617: Congenital primary megalo-ureter
ORPHA:617294: Twin anemia-polycythemia sequence
ORPHA:617294: TAPS
ORPHA:617297: Twin-reversed arterial perfusion sequence
ORPHA:617297: TRAP
ORPHA:617301: Selective intrauterine growth restriction
ORPHA:617301: Selective fetal growth restriction
ORPHA:617301: sFGR
ORPHA:617301: sIUGR
ORPHA:617304: Amniotic fluid embolism
ORPHA:617307: Rare disorder related to monochorionic twin pregnancy
ORPHA:617310: Rare disorder due to unbalanced inter-twin blood transfusion
ORPHA:617313: Rare disorder due to inadequate sharing of the placenta
ORPHA:617408: Classic eosinophilic pustular folliculitis
ORPHA:617408: Classic EPF
ORPHA:617408: Ofuji disease
ORPHA:617440: Painful legs and moving toes syndrome
ORPHA:617440: PLMT syndrome
ORPHA:617449: Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome
ORPHA:617910: Conjunctival malignant melanoma
ORPHA:617910: Conjunctival melanoma
ORPHA:617916: Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
ORPHA:617919: F12-associated cold autoinflammatory syndrome
ORPHA:617919: FACAS
ORPHA:617930: Hemophilia B Leyden
ORPHA:617930: F9 deficiency, Leyden type
ORPHA:617930: Factor IX deficiency, Leyden type
ORPHA:618: Familial melanoma
ORPHA:618891: Chronic neurovisceral acid sphingomyelinase deficiency
ORPHA:618891: Chronic neurovisceral ASMD
ORPHA:618891: NPD-A/B
ORPHA:618891: Niemann-Pick disease type A/B
ORPHA:618899: Acid sphingomyelinase deficiency
ORPHA:618899: ASMD
ORPHA:619233: Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
ORPHA:619233: Dias-Logan syndrome
ORPHA:619238: Rare hereditary autoinflammatory disease
ORPHA:619249: Rare hereditary connective tissue disease
ORPHA:619284: Narcolepsy
ORPHA:619284: Narcolepsy with or without cataplexy
ORPHA:619340: Inherited hematologic cancer-predisposing syndrome
ORPHA:619363: NOCARH syndrome
ORPHA:619363: Neonatal-onset cytopenia-autoinflammation-rash episodes of HLH syndrome
ORPHA:619363: Neonatal-onset cytopenia-autoinflammation-rash episodes of hemophagocytic lymphohistiocytosis syndrome
ORPHA:619367: SAMD9L-associated autoinflammatory syndrome
ORPHA:619367: SAMD9L-SAAD
ORPHA:619941: Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency
ORPHA:619941: Congenital neutropenia-CID due to MKL1 deficiency
ORPHA:619941: Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency
ORPHA:619941: MKL1-related neutrophil motility defect
ORPHA:619948: Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency
ORPHA:619948: Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency
ORPHA:619948: SOCS1-related autoinflammatory syndrome
ORPHA:619953: Familial hyperinflammatory lymphoproliferative immunodeficiency
ORPHA:619953: HEM1 deficiency syndrome
ORPHA:619953: NCKAP1L-associated hyperinflammatory disorder
ORPHA:619972: CADINS disease
ORPHA:619972: CARD11-associated atopy with dominant interference of NF-kB signaling syndrome
ORPHA:619979: Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
ORPHA:62: Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
ORPHA:62: Alpha-sarcoglycan-related LGMD R3
ORPHA:62: Alpha-sarcoglycanopathy
ORPHA:62: Autosomal recessive limb-girdle muscular dystrophy type 2D
ORPHA:62: LGMD due to alpha-sarcoglycan deficiency
ORPHA:62: LGMD type 2D
ORPHA:62: LGMD2D
ORPHA:62: Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency
ORPHA:62: Limb-girdle muscular dystrophy type 2D
ORPHA:620096: Non-syndromic unisutural craniosynostosis
ORPHA:620096: Isolated unisutural craniosynostosis
ORPHA:620096: Non-syndromic single suture synostosis
ORPHA:620102: Non-syndromic unicoronal craniosynostosis
ORPHA:620102: Isolated frontal plagiocephaly
ORPHA:620102: Isolated unicoronal craniosynostosis
ORPHA:620102: Non-syndromic anterior synostotic plagiocephaly
ORPHA:620102: Non-syndromic frontoparietal craniosynostosis
ORPHA:620102: Non-syndromic hemicoronal craniosynostosis
ORPHA:620102: Non-syndromic unilateral coronal synostosis
ORPHA:620113: Non-syndromic unilambdoid craniosynostosis
ORPHA:620113: Isolated occipital plagiocephaly
ORPHA:620113: Isolated unilamboid craniosynostosis
ORPHA:620113: Non-syndromic posterior synostotic plagiocephaly
ORPHA:620113: Non-syndromic unilateral lambdoid synostosis
ORPHA:620139: Non-syndromic unifrontosphenoidal craniosynostosis
ORPHA:620139: Isolated unifrontosphenoidal craniosynostosis
ORPHA:620139: Isolated unilateral sphenofrontal suture synostosis
ORPHA:620139: Non-syndromic unilateral frontosphenoidal suture synostosis
ORPHA:620146: Non-syndromic unisquamosal craniosynostosis
ORPHA:620146: Isolated unisquamosal craniosynostosis
ORPHA:620146: Non-syndromic unilateral squamosal suture synostosis
ORPHA:620152: Non-syndromic multisutural craniosynostosis
ORPHA:620152: Isolated multisutural craniosynostosis
ORPHA:620152: Non-syndromic multiple suture synostosis
ORPHA:620158: Non-syndromic non-specific multisutural craniosynostosis
ORPHA:620158: Isolated non-specific multisutural craniosynostosis
ORPHA:620158: Non-syndromic non-specific multiple suture synostosis
ORPHA:620178: Non-syndromic bilambdoid craniosynostosis
ORPHA:620178: Isolated bilambdoid craniosynostosis
ORPHA:620178: Isolated pachycephaly
ORPHA:620178: Non-syndromic bilateral lambdoid synostosis
ORPHA:620186: Non-syndromic unicoronal and sagittal craniosynostosis
ORPHA:620186: Isolated unicoronal and sagittal craniosynostosis
ORPHA:620186: Non-syndromic unilateral coronal and sagittal suture synostosis
ORPHA:620192: Non-syndromic metopic and sagittal craniosynostosis
ORPHA:620192: Isolated metopic and sagittal craniosynostosis
ORPHA:620192: Non-syndromic metopic and sagittal suture synostosis
ORPHA:620198: Non-syndromic bicoronal and metopic craniosynostosis
ORPHA:620198: Isolated bicoronal and metopic craniosynostosis
ORPHA:620198: Non-syndromic bilateral coronal and metopic suture synostosis
ORPHA:620205: Non-syndromic bicoronal and sagittal craniosynostosis
ORPHA:620205: Isolated bicoronal and sagittal craniosynostosis
ORPHA:620205: Non-syndromic sagittal and bilateral coronal synostosis
ORPHA:620212: Non-syndromic pansynostosis
ORPHA:620212: Isolated pansynostosis
ORPHA:620212: Non-syndromic synostosis of all cranial vault sutures
ORPHA:620217: Bartter syndrome type 1
ORPHA:620217: Bartter syndrome type I
ORPHA:620220: Bartter syndrome type 2
ORPHA:620220: Bartter syndrome type II
ORPHA:620363: Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
ORPHA:620368: EGF-related primary hypomagnesemia with intellectual disability
ORPHA:620371: Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
ORPHA:620371: Gitelman-like kidney tubulopathy due to mtDNA mutation
ORPHA:621: Hereditary methemoglobinemia
ORPHA:621: Autosomal recessive methemoglobinemia
ORPHA:621: Congenital methemoglobinemia
ORPHA:621758: Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
ORPHA:621758: FINCA
ORPHA:621758: Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome
ORPHA:622: Homocystinuria without methylmalonic aciduria
ORPHA:622: Functional methionine synthase deficiency
ORPHA:622: Methylcobalamin deficiency
ORPHA:622014: Autoimmune encephalitis
ORPHA:622014: AE
ORPHA:622014: AIE
ORPHA:622099: Superior mesenteric artery syndrome
ORPHA:622099: SMAS
ORPHA:622099: Wilkie syndrome
ORPHA:622720: Genetic autoinflammatory syndrome with skin involvement
ORPHA:622914: Rare genetic nevus
ORPHA:622925: X-linked severe syndromic thoracic aortic aneurysm and dissection
ORPHA:622925: Meester-Loeys syndrome
ORPHA:622925: X-linked severe syndromic TAAD
ORPHA:622934: SBDS-related severe neonatal spondylometaphyseal dysplasia
ORPHA:622934: SBDS-related severe neonatal SMD
ORPHA:622934: Spondylometaphyseal dysplasia, Sedaghatian-like type
ORPHA:623615: Autoimmune limbic encephalitis
ORPHA:623615: ALE
ORPHA:623626: Paraneoplastic cerebellar degeneration
ORPHA:623626: PCD
ORPHA:623626: Paraneoplastic cerebellar ataxia
ORPHA:623626: Rapidely progressive cerebellar syndrome
ORPHA:623626: Subacute cerebellar degeneration
ORPHA:623638: Immune-mediated cerebellar ataxia
ORPHA:623638: Autoimmune cerebellitis
ORPHA:623638: IMCA
ORPHA:623695: MIR140-related spondyloepiphyseal dysplasia
ORPHA:623695: MIR140-related SED
ORPHA:623695: Spondyloepiphyseal dysplasia with severe brachydactyly and cone-shaped epiphyses
ORPHA:623789: Body integrity dysphoria
ORPHA:623789: BID
ORPHA:623789: BIID
ORPHA:623789: Body integrity identity disorder
ORPHA:623801: Acute flaccid myelitis
ORPHA:624: Familial multiple nevi flammei
ORPHA:624: Familial multiple port-wine stains
ORPHA:624166: Non-specific autoimmune supratentorial encephalitis with characteristic antibodies
ORPHA:624166: Non-specific supratentorial AE with characteristic antibodies
ORPHA:624178: Non-specific autoimmune supratentorial encephalitis without characteristic antibodies
ORPHA:624178: Non-specific supratentorial AE without characteristic antibodies
ORPHA:624190: Paraneoplastic isolated brainstem encephalitis
ORPHA:624190: Paraneoplastic isolated rhombencephalitis
ORPHA:624190: Paraneoplastic isolated rhomboencephalitis
ORPHA:624199: Non-specific autoimmune brainstem encephalitis with characteristic antibodies
ORPHA:624199: Non-specific autoimmune rhombencephalitis with characteristic antibodies
ORPHA:624199: Non-specific autoimmune rhomboencephalitis with characteristic antibodies
ORPHA:624216: Non-specific autoimmune brainstem encephalitis without characteristic antibodies
ORPHA:624216: Non-specific autoimmune rhombencephalitis without characteristic antibodies
ORPHA:624216: Non-specific autoimmune rhomboencephalitis without characteristic antibodies
ORPHA:624244: Postinfectious cerebellitis
ORPHA:624244: ACA
ORPHA:624244: APCA
ORPHA:624244: Acute cerebellar ataxia
ORPHA:624244: Acute postinfectious cerebellar ataxia
ORPHA:624244: PIC
ORPHA:624244: Para-infectious cerebellitis
ORPHA:624259: Non-specific autoimmune cerebellar ataxia with characteristic antibodies
ORPHA:624259: Non-specific autoimmune CA with characteristic antibodies
ORPHA:624268: Non-specific autoimmune cerebellar ataxia without characteristic antibodies
ORPHA:624268: Non-specific autoimmune CA without characteristic antibodies
ORPHA:624268: PACA
ORPHA:624268: Primary Autoimmune Cerebellar Ataxia
ORPHA:626: Large/giant congenital melanocytic nevus
ORPHA:626: LGCMN
ORPHA:626: Large/giant CMN syndrome
ORPHA:626: Large/giant congenital pigmented nevus
ORPHA:626609: Rare andrological tumor
ORPHA:627: Nance-Horan syndrome
ORPHA:628: Diastrophic dysplasia
ORPHA:628: Diastrophic dwarfism
ORPHA:629: Short stature due to growth hormone qualitative anomaly
ORPHA:629: Kowarski syndrome
ORPHA:63: Alport syndrome
ORPHA:63: Alport deafness-nephropathy
ORPHA:63: Alport hearing loss-nephropathy
ORPHA:631: Non-acquired isolated growth hormone deficiency
ORPHA:631: Congenital IGHD
ORPHA:631: Congenital isolated GH deficiency
ORPHA:631: Congenital isolated growth hormone deficiency
ORPHA:631068: Autosomal dominant spastic paraplegia type 80
ORPHA:631073: Autosomal recessive spastic paraplegia type 82
ORPHA:631076: Autosomal recessive spastic paraplegia type 83
ORPHA:631079: Autosomal recessive spastic paraplegia type 84
ORPHA:631082: Autosomal recessive spastic paraplegia type 85
ORPHA:631085: Autosomal recessive spastic paraplegia type 86
ORPHA:631088: Autosomal recessive spastic paraplegia type 87
ORPHA:631095: Spinocerebellar ataxia type 44
ORPHA:631103: Spinocerebellar ataxia type 48
ORPHA:631106: Spinocerebellar ataxia type 49
ORPHA:631248: Mitchell Syndrome
ORPHA:631251: Cancer of unknown primary site
ORPHA:631251: CUP
ORPHA:631251: Carcinoma of unknown primary
ORPHA:631251: Carcinoma of unknown primary origin
ORPHA:631251: Metastases without primary tumor
ORPHA:632: Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
ORPHA:63259: Iniencephaly
ORPHA:63260: Craniorachischisis
ORPHA:632603: Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
ORPHA:63269: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
ORPHA:63269: Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome
ORPHA:63273: Distal myopathy with posterior leg and anterior hand involvement
ORPHA:63273: Distal ABD-filaminopathy
ORPHA:63275: Pemphigoid gestationis
ORPHA:63275: Gestational pemphigoid
ORPHA:633: Laron syndrome
ORPHA:633: Complete growth hormone insensitivity
ORPHA:633: GH receptor deficiency
ORPHA:633: Growth hormone receptor deficiency
ORPHA:633: Laron-type dwarfism
ORPHA:633: Primary GH insensitivity
ORPHA:633: Primary GH resistance
ORPHA:633: Primary growth hormone insensitivity
ORPHA:633: Primary growth hormone resistance
ORPHA:633: Short stature due to growth hormone resistance
ORPHA:633004: KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
ORPHA:633004: Diets-Jongmans Syndrome
ORPHA:633014: SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
ORPHA:633021: SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
ORPHA:633021: Kilquist syndrome
ORPHA:633024: SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
ORPHA:633024: Delpire-McNeill syndrome
ORPHA:633028: CPE-related Prader-Willi-like syndrome
ORPHA:633028: BDV syndrome
ORPHA:633028: Blakemore-Durmaz-Vasileiou syndrome
ORPHA:633035: Intellectual disability-early-onset cataract-microcephaly syndrome
ORPHA:633035: Baralle-Macken syndrome
ORPHA:633076: Split cord malformation, composite type
ORPHA:633076: Split cord malformation type 1.5
ORPHA:633076: Split cord malformation, intermediate type
ORPHA:633076: Split cord malformation, mixed type
ORPHA:633099: PAICS deficiency
ORPHA:633099: Phosphoribosylaminoimidazole carboxylase deficiency
ORPHA:633124: Invasive scopulariopsis infection
ORPHA:633211: Preaxial digit brachydactyly-webbed fingers
ORPHA:633211: Preaxial brachydactyly, PAX3 type
ORPHA:633228: Isolated proximal femoral focal deficiency
ORPHA:633228: CPFD
ORPHA:633228: Isolated congenital proximal femoral deficiency
ORPHA:633228: PFFD
ORPHA:634: Netherton syndrome
ORPHA:634: Bamboo hair syndrome
ORPHA:634: Comèl-Netherton syndrome
ORPHA:634: NS
ORPHA:63442: Angel-shaped phalango-epiphyseal dysplasia
ORPHA:63442: ASPED
ORPHA:63443: Rare epithelial tumor of stomach
ORPHA:63443: Rare gastric epithelial tumor
ORPHA:63446: Acrocapitofemoral dysplasia
ORPHA:634461: Mosaic neurofibromatosis type 1
ORPHA:634461: MNF1
ORPHA:634461: Mosaic NF1
ORPHA:634475: Mosaic NF2-related schwannomatosis
ORPHA:634475: MNF2
ORPHA:634475: Mosaic NF2
ORPHA:634475: Mosaic neurofibromatosis type 2
ORPHA:634492: Mosaic schwannomatosis
ORPHA:634492: MNF3
ORPHA:634492: Mosaic SWN
ORPHA:634492: Mosaic neurilemmomatosis
ORPHA:634492: Mosaic neurofibromatosis type 3
ORPHA:634511: Mosaic Legius syndrome
ORPHA:634511: Mosaic NF1-like syndrome
ORPHA:634511: Mosaic neurofibromatosis 1-like syndrome
ORPHA:634518: Neurofibromatosis/schwannomatosis
ORPHA:634518: NF/SWN
ORPHA:63454: Pattern dystrophy
ORPHA:63454: Patterned dystrophy of the retinal pigment epithelium
ORPHA:63455: Paraneoplastic pemphigus
ORPHA:635: Neuroblastoma
ORPHA:636: Neurofibromatosis type 1
ORPHA:636: Nonmosaic NF1
ORPHA:636: Nonmosaic neurofibromatosis type 1
ORPHA:636: Von Recklinghausen disease