TaoMedAI/RareMedData huggingface dataset:
ORPHA:371364: Hypotonia-speech impairment-severe cognitive delay syndrome
ORPHA:371364: IHPRF syndrome
ORPHA:371364: Infantile hypotonia-psychomotor retardation-characteristic facies syndrome
ORPHA:371428: Multicentric osteolysis-nodulosis-arthropathy spectrum
ORPHA:371428: MONA spectrum
ORPHA:371428: NAO syndrome
ORPHA:371428: Nodulosis-arthropathy-osteolysis syndrome
ORPHA:371428: Torg-Winchester syndrome
ORPHA:371433: Genetic periodic paralysis
ORPHA:371436: Genetic neurovascular malformation
ORPHA:371442: Sphingolipidosis with epilepsy
ORPHA:371445: Genetic syndromic esophageal malformation
ORPHA:371861: Genetic hyperaldosteronism
ORPHA:37202: Interstitial cystitis
ORPHA:37202: Bladder pain syndrome
ORPHA:37202: IC/BPS
ORPHA:37202: IC/PBS
ORPHA:37202: Interstitial cystitis/bladder pain syndrome
ORPHA:37202: Interstitial cystitis/painful bladder syndrome
ORPHA:37202: Painful bladder syndrome
ORPHA:373: Simpson-Golabi-Behmel syndrome
ORPHA:373: DGSX
ORPHA:373: Golabi-Rosen syndrome
ORPHA:373: SDYS
ORPHA:373: SGBS
ORPHA:373: SGBS1
ORPHA:373: Simpson dysmorphia syndrome
ORPHA:373: Simpson-Golabi-Behmel syndrome type 1
ORPHA:373: X-linked dysplasia gigantism syndrome
ORPHA:375: Anti-glomerular basement membrane disease
ORPHA:375: Anti-GBM syndrome
ORPHA:375: Goodpasture syndrome
ORPHA:37553: Andersen-Tawil syndrome
ORPHA:37553: Andersen syndrome
ORPHA:37553: LQT7
ORPHA:37553: Long QT syndrome type 7
ORPHA:37559: Acquired kinky hair syndrome
ORPHA:376: Gordon syndrome
ORPHA:376: Camptodactyly-cleft palate-clubfoot syndrome
ORPHA:376: Distal arthrogryposis type 3
ORPHA:376: Distal arthrogryposis type IIA
ORPHA:37612: Episodic ataxia type 1
ORPHA:37612: Episodic ataxia with myokymia
ORPHA:376724: Generalized isolated dystonia
ORPHA:377: Gorlin syndrome
ORPHA:377: Basal cell nevus syndrome
ORPHA:377: Gorlin-Goltz syndrome
ORPHA:377: NBCCS
ORPHA:377: Nevoid basal cell carcinoma syndrome
ORPHA:37748: Schnitzler syndrome
ORPHA:37748: Chronic urticaria with gammopathy
ORPHA:37748: Chronic urticaria with macroglobulinemia
ORPHA:379: Chronic granulomatous disease
ORPHA:379: CGD
ORPHA:379: Chronic septic granulomatosis
ORPHA:38: Acrokeratoelastoidosis of Costa
ORPHA:38: AKE
ORPHA:38: PPKP3
ORPHA:38: Punctate palmoplantar hyperkeratosis type 3
ORPHA:38: Punctate palmoplantar keratoderma type 3
ORPHA:380: Greig cephalopolysyndactyly syndrome
ORPHA:380: GCPS
ORPHA:381: Griscelli syndrome
ORPHA:381: Chédiak-Higashi-like syndrome
ORPHA:381: Griscelli-Pruniéras syndrome
ORPHA:381: Partial albinism-immunodeficiency syndrome
ORPHA:382: Guanidinoacetate methyltransferase deficiency
ORPHA:382: GAMT deficiency
ORPHA:384: Huriez syndrome
ORPHA:384: Palmoplantar hyperkeratosis-sclerodactyly syndrome
ORPHA:384: Palmoplantar keratoderma-sclerodactyly syndrome
ORPHA:384: Scleroatrophic syndrome
ORPHA:384: Sclerotylosis
ORPHA:385: Neurodegeneration with brain iron accumulation
ORPHA:385: NBIA
ORPHA:386: Hepatic cystic hamartoma
ORPHA:386: Biliary hamartoma
ORPHA:386: MHL
ORPHA:386: Mesenchymal hamartoma of liver
ORPHA:386: VMC
ORPHA:386: Von Meyenburg complexes disease
ORPHA:388: Hirschsprung disease
ORPHA:388: Aganglionic megacolon
ORPHA:388: Colonic aganglionosis
ORPHA:388: Congenital intestinal aganglionosis
ORPHA:388: HSCR
ORPHA:38874: Dihydropyrimidinuria
ORPHA:38874: Dihydropyrimidinase deficiency
ORPHA:389: Langerhans cell histiocytosis
ORPHA:389: Histiocytosis X
ORPHA:389: Langerhans cell granulomatosis
ORPHA:39: Acromelanosis
ORPHA:390: Histoplasmosis
ORPHA:390: Darling disease
ORPHA:39041: Omenn syndrome
ORPHA:39041: Combined immunodeficiency with hypereosinophilia
ORPHA:39044: Uveal melanoma
ORPHA:39044: Choroid melanoma
ORPHA:39044: Choroidal and ciliary body melanomas
ORPHA:39044: Melanoma of choroid
ORPHA:39044: Melanoma of uvea
ORPHA:391: Classic Hodgkin lymphoma
ORPHA:391: Classic Hodgkin disease
ORPHA:391307: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
ORPHA:391311: Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
ORPHA:391311: Predisposition to severe viral infection due to STAT1 deficiency
ORPHA:391311: STAT1 deficiency
ORPHA:391316: Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
ORPHA:391320: East Texas bleeding disorder
ORPHA:391320: FV East Texas bleeding disorder
ORPHA:391320: Factor V East Texas bleeding disorder
ORPHA:391327: X-linked calvarial hyperostosis
ORPHA:391330: X-linked osteoporosis with fractures
ORPHA:391343: Fatal post-viral neurodegenerative disorder
ORPHA:391348: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
ORPHA:391351: SURF1-related Charcot-Marie-Tooth disease type 4
ORPHA:391351: CMT4K
ORPHA:391351: Charcot-Marie-Tooth disease type 4K
ORPHA:391351: SURF1-related CMT4
ORPHA:391351: SURF1-related severe demyelinating Charcot-Marie-Tooth disease
ORPHA:391366: Growth retardation-mild developmental delay-chronic hepatitis syndrome
ORPHA:391372: FOXP1 Syndrome
ORPHA:391372: FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome
ORPHA:391376: Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
ORPHA:391376: Asparagine synthetase deficiency
ORPHA:391381: Disorder of asparagine metabolism
ORPHA:391384: Familial episodic pain syndrome
ORPHA:391384: FEPS
ORPHA:391389: Familial episodic pain syndrome with predominantly upper body involvement
ORPHA:391392: Familial episodic pain syndrome with predominantly lower limb involvement
ORPHA:391397: Hereditary sensory and autonomic neuropathy type 7
ORPHA:391397: CIP with hyperhidrosis and gastrointestinal dysfunction
ORPHA:391397: Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction
ORPHA:391397: HSAN with hyperhidrosis and gastrointestinal dysfunction
ORPHA:391397: HSAN7
ORPHA:391397: Hereditary sensory and autonomic neuropathy type VII
ORPHA:391397: Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction
ORPHA:391408: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
ORPHA:391411: Atypical juvenile parkinsonism
ORPHA:391417: HSD10 disease
ORPHA:391417: 2-methyl-3-hydroxybutyric aciduria
ORPHA:391417: 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
ORPHA:391417: HSD10 deficiency
ORPHA:391417: MHBD deficiency
ORPHA:391428: HSD10 disease, infantile type
ORPHA:391428: 2-methyl-3-hydroxybutyric aciduria, classic type
ORPHA:391428: 2-methyl-3-hydroxybutyric aciduria, infantile type
ORPHA:391428: 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type
ORPHA:391428: 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type
ORPHA:391428: HSD10 deficiency, classic type
ORPHA:391428: HSD10 deficiency, infantile type
ORPHA:391428: HSD10 disease, classic type
ORPHA:391428: MHBD deficiency, classic type
ORPHA:391428: MHBD deficiency, infantile type
ORPHA:391457: HSD10 disease, neonatal type
ORPHA:391457: 2-methyl-3-hydroxybutyric aciduria, neonatal type
ORPHA:391457: 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type
ORPHA:391457: HSD10 deficiency, neonatal type
ORPHA:391457: MHBD deficiency, neonatal type
ORPHA:391474: Frontorhiny
ORPHA:391474: ALX3-related frontonasal dysplasia
ORPHA:391474: Frontonasal dysplasia type 1
ORPHA:391474: Isolated median cleft face syndrome
ORPHA:391487: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
ORPHA:391490: Adult-onset myasthenia gravis
ORPHA:391490: Adult-onset acquired myasthenia
ORPHA:391490: Adult-onset autoimmune myasthenia gravis
ORPHA:391497: Juvenile myasthenia gravis
ORPHA:391497: Childhood myasthenia gravis
ORPHA:391497: Juvenile acquired myasthenia
ORPHA:391497: Juvenile autoimmune myasthenia gravis
ORPHA:391504: Transient neonatal myasthenia gravis
ORPHA:391504: NMG
ORPHA:391504: Neonatal myasthenia gravis
ORPHA:391504: Transient neonatal acquired myasthenia
ORPHA:391504: Transient neonatal autoimmune myasthenia gravis
ORPHA:391641: Feingold syndrome type 1
ORPHA:391641: Brunner-Winter syndrome type 1
ORPHA:391641: Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1
ORPHA:391641: FGLDS1
ORPHA:391641: FS1
ORPHA:391641: MMT type 1
ORPHA:391641: MODED syndrome type 1
ORPHA:391641: Microcephaly-digital anomalies-normal intelligence syndrome type 1
ORPHA:391641: Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1
ORPHA:391641: Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1
ORPHA:391641: ODED syndrome type 1
ORPHA:391641: Oculo-digito-esophageal-duodenal syndrome type 1
ORPHA:391646: Feingold syndrome type 2
ORPHA:391646: Brachydactyly-short stature-microcephaly syndrome
ORPHA:391646: Brunner-Winter syndrome type 2
ORPHA:391646: FGLDS2
ORPHA:391646: FS2
ORPHA:391646: MMT type 2
ORPHA:391646: Microcephaly-digital anomalies-normal intelligence syndrome type 2
ORPHA:391646: Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2
ORPHA:391651: Glomus tumor
ORPHA:391655: Off-periods in Parkinson disease not responding to oral treatment
ORPHA:391665: Homozygous familial hypercholesterolemia
ORPHA:391665: HoFH
ORPHA:391673: Necrotizing enterocolitis
ORPHA:391677: Short stature-optic atrophy-Pelger-Huët anomaly syndrome
ORPHA:391677: SOPH syndrome
ORPHA:391711: Persistent combined dystonia
ORPHA:391723: Mucinous adenocarcinoma of the appendix
ORPHA:391723: Appendiceal mucinous adenocarcinoma
ORPHA:391799: Rare genetic dystonia
ORPHA:391799: Rare genetic dystonic disorder
ORPHA:392: Holt-Oram syndrome
ORPHA:392: Atriodigital dysplasia type 1
ORPHA:392: HOS
ORPHA:392: Heart-hand syndrome type 1
ORPHA:393: 46,XX testicular difference of sex development
ORPHA:393: 46,XX testicular DSD
ORPHA:393: 46,XX testicular disorder of sex development
ORPHA:393: De la Chapelle syndrome
ORPHA:393: XX, male syndrome
ORPHA:394: Homocystinuria due to cystathionine beta-synthase deficiency
ORPHA:394: CBS-deficient HCU
ORPHA:394: Classical homocystinuria
ORPHA:394: Cystathionine beta-synthase deficiency
ORPHA:394: Cystathionine beta-synthase-deficient homocystinuria
ORPHA:394: Homocystinuria due to CBS deficiency
ORPHA:394529: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
ORPHA:394529: Glutaric aciduria type 2, severe neonatal type
ORPHA:394529: MAD deficiency, severe neonatal type
ORPHA:394529: MADD, severe neonatal type
ORPHA:394532: Multiple acyl-CoA dehydrogenase deficiency, mild type
ORPHA:394532: Glutaric aciduria type 2, mild type
ORPHA:394532: MAD deficiency, mild type
ORPHA:394532: MADD, mild type
ORPHA:395: Homocystinuria due to methylene tetrahydrofolate reductase deficiency
ORPHA:395: MTHFR deficiency
ORPHA:395: Methylene tetrahydrofolate reductase deficiency
ORPHA:396: Chronic hiccup
ORPHA:397: Giant cell arteritis
ORPHA:397: Horton disease
ORPHA:397: Temporal arteritis
ORPHA:397587: Deep dermatophytosis
ORPHA:397587: Disseminated granulomatous dermatophytosis
ORPHA:397590: Silver-Russell syndrome due to a point mutation
ORPHA:397593: Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
ORPHA:397596: Activated PI3K-delta syndrome
ORPHA:397596: APDS
ORPHA:397596: Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
ORPHA:397606: PrP systemic amyloidosis
ORPHA:397606: Chronic diarrhea with HSAN
ORPHA:397606: Chronic diarrhea with hereditary sensory and autonomic neuropathy
ORPHA:397606: Prion protein systemic amyloidosis
ORPHA:397612: Macrocephaly-developmental delay syndrome
ORPHA:397615: Obesity due to CEP19 deficiency
ORPHA:397618: Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
ORPHA:397618: FHONDA syndrome
ORPHA:397623: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
ORPHA:397623: SAMS syndrome
ORPHA:397685: Familial hyperprolactinemia
ORPHA:397685: Familial isolated prolactin receptor deficiency
ORPHA:397692: Hereditary isolated aplastic anemia
ORPHA:397695: 3q27.3 microdeletion syndrome
ORPHA:397695: Del(3)(q27.3)
ORPHA:397709: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
ORPHA:397709: Autosomal recessive spinocerebellar ataxia type 20
ORPHA:397709: Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome
ORPHA:397709: SCAR20
ORPHA:397715: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
ORPHA:397715: JBTS with JATD
ORPHA:397715: Joubert syndrome with JATD
ORPHA:397725: COASY protein-associated neurodegeneration
ORPHA:397725: CoPAN
ORPHA:397725: NBIA6
ORPHA:397725: Neurodegeneration with brain iron accumulation due to COASY mutation
ORPHA:397735: Autosomal dominant Charcot-Marie-Tooth disease type 2U
ORPHA:397735: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
ORPHA:397735: CMT2U
ORPHA:397744: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
ORPHA:397744: Peripheral neuropathy-myopathy-hoarseness-deafness syndrome
ORPHA:397750: Periodic paralysis with later-onset distal motor neuropathy
ORPHA:397755: Periodic paralysis with transient compartment-like syndrome
ORPHA:397758: Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
ORPHA:397758: Retinal dystrophy with inner nuclear layer and ganglion cell anomalies
ORPHA:397787: Combined immunodeficiency due to IKK2 deficiency
ORPHA:397787: CID due to IKK2 deficiency
ORPHA:397787: Combined immunodeficiency due to I-kappa-B kinase 2 deficiency
ORPHA:397802: T+ B+ severe combined immunodeficiency
ORPHA:397922: Ferro-cerebro-cutaneous syndrome
ORPHA:397922: Cerebro-cutaneous syndrome with iron overload
ORPHA:397927: Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
ORPHA:397933: Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
ORPHA:397933: IQSEC2-related syndromic intellectual disability
ORPHA:397937: Polyglucosan body myopathy type 1
ORPHA:397937: PGBM1
ORPHA:397941: MAN1B1-CDG
ORPHA:397941: Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
ORPHA:397941: Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
ORPHA:397941: Congenital disorder of glycosylation type II due to MAN1B1 deficiency
ORPHA:397941: Intellectual disability-truncal obesity syndrome
ORPHA:397946: Autosomal spastic paraplegia type 58
ORPHA:397946: Autosomal spastic ataxia type 2
ORPHA:397946: SPAX2
ORPHA:397946: SPG58
ORPHA:397951: Microcephaly-thin corpus callosum-intellectual disability syndrome
ORPHA:397959: TCR-alpha-beta-positive T-cell deficiency
ORPHA:397959: TCR-alpha-beta+ T-cell deficiency
ORPHA:397964: Combined immunodeficiency due to MALT1 deficiency
ORPHA:397968: Charcot-Marie-Tooth disease type 2R
ORPHA:397968: CMT2R
ORPHA:397973: Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
ORPHA:397973: MOMES syndrome
ORPHA:398043: Malignant tumor of penis
ORPHA:398043: Cancer of penis
ORPHA:398043: Malignant penile tumor
ORPHA:398043: Penile cancer
ORPHA:398053: Adenocarcinoma of the penis
ORPHA:398053: Penile adenocarcinoma
ORPHA:398058: Squamous cell carcinoma of the penis
ORPHA:398058: Penile squamous cell carcinoma
ORPHA:398063: Refractory celiac disease
ORPHA:398063: Refractory CD
ORPHA:398063: Refractory sprue
ORPHA:398069: Schaaf-Yang syndrome
ORPHA:398069: SYS
ORPHA:398073: Prader-Willi-like syndrome
ORPHA:398073: PWS-like
ORPHA:398079: SIM1-related Prader-Willi-like syndrome
ORPHA:398079: SIM1-related PWLS
ORPHA:398088: Hereditary cryohydrocytosis with normal stomatin
ORPHA:398091: Secondary neonatal autoimmune disease
ORPHA:398091: Transplacentally acquired neonatal autoimmune disease
ORPHA:398097: Neonatal antiphospholipid syndrome
ORPHA:398097: Neonatal Hughes syndrome
ORPHA:398097: Neonatal antiphospholipid antibody syndrome
ORPHA:398109: Neonatal autoimmune hemolytic anemia
ORPHA:398109: Neonatal AHA
ORPHA:398109: Neonatal AIHA
ORPHA:398117: Neonatal dermatomyositis
ORPHA:398117: Neonatal DM
ORPHA:39812: Graft versus host disease
ORPHA:39812: GvHD
ORPHA:398124: Neonatal lupus erythematosus
ORPHA:398127: Neonatal scleroderma
ORPHA:398147: Persistent idiopathic facial pain
ORPHA:398147: AFP
ORPHA:398147: Atypical facial pain
ORPHA:398147: PIFP
ORPHA:398156: Oculoauriculofrontonasal syndrome
ORPHA:398156: OAFNS
ORPHA:398166: Focal facial dermal dysplasia
ORPHA:398166: FFDD
ORPHA:398173: Focal facial dermal dysplasia type II
ORPHA:398173: FFDD type II
ORPHA:398173: FFDD2
ORPHA:398173: Focal facial dermal dysplasia 2, Brauer-Setleis type
ORPHA:398189: Focal facial dermal dysplasia type IV
ORPHA:398189: FFDD type IV
ORPHA:398189: FFDD4
ORPHA:398189: Focal facial dermal dysplasia 4
ORPHA:398189: Focal facial preauricular dysplasia
ORPHA:398934: Malignant epithelial tumor of ovary
ORPHA:398934: Epithelial cancer of ovary
ORPHA:398934: Ovarian epithelial cancer
ORPHA:398934: Ovarian malignant epithelial tumor
ORPHA:398940: Malignant non-epithelial tumor of ovary
ORPHA:398940: Non-epithelial cancer of ovary
ORPHA:398940: Ovarian malignant non-epithelial tumor
ORPHA:398940: Ovarian non-epithelial cancer
ORPHA:398961: Mucinous adenocarcinoma of ovary
ORPHA:398961: Ovarian mucinous adenocarcinoma
ORPHA:398971: Clear cell adenocarcinoma of the ovary
ORPHA:398971: Ovarian clear cell adenocarcinoma
ORPHA:398987: Malignant teratoma of ovary
ORPHA:398987: Immature teratoma of ovary
ORPHA:398987: Ovarian immature teratoma
ORPHA:398987: Ovarian malignant teratoma
ORPHA:399: Huntington disease
ORPHA:399: Huntington chorea
ORPHA:399058: Alpha-B crystallin-related late-onset myopathy
ORPHA:399058: Alpha-B crystallin-related late-onset distal myopathy
ORPHA:399058: Late-onset distal crystallinopathy
ORPHA:399081: KLHL9-related early-onset distal myopathy
ORPHA:399086: Finnish upper limb-onset distal myopathy
ORPHA:399086: Distal myopathy type 3
ORPHA:399086: MPD3
ORPHA:399096: Distal anoctaminopathy
ORPHA:399096: MMD3
ORPHA:399096: Miyoshi muscular dystrophy type 3
ORPHA:399103: Distal nebulin myopathy
ORPHA:399103: Nebulin-related early-onset distal myopathy
ORPHA:399158: Osteonecrosis
ORPHA:399158: Bone necrosis
ORPHA:399164: Avascular necrosis
ORPHA:399164: AVN
ORPHA:399169: Secondary avascular necrosis
ORPHA:399169: Secondary AVN
ORPHA:399175: Traumatic avascular necrosis
ORPHA:399175: Traumatic AVN
ORPHA:399180: Secondary non-traumatic avascular necrosis
ORPHA:399180: Secondary non-traumatic AVN
ORPHA:399180: Secondary non-traumatic osteonecrosis
ORPHA:399185: Rare hereditary disease with avascular necrosis
ORPHA:399293: Osteonecrosis of the jaw
ORPHA:399302: Primary avascular necrosis
ORPHA:399302: Primary AVN
ORPHA:399307: Idiopathic avascular necrosis
ORPHA:399307: Idiopathic AVN
ORPHA:399319: Osteochondrosis
ORPHA:399329: Epiphysiolysis of the hip
ORPHA:399329: Epiphysiolysis of the upper femur
ORPHA:399329: Femoral head epiphysiolysis
ORPHA:399329: SCFE
ORPHA:399329: SUFE
ORPHA:399329: Slipped capital femoral epiphysis
ORPHA:399329: Slipped upper femoral epiphysis
ORPHA:399380: Osteonecrosis of genetic origin
ORPHA:399380: Bone necrosis of genetic origin
ORPHA:399388: Avascular necrosis of genetic origin
ORPHA:399391: Osteochondrosis of genetic origin
ORPHA:399572: Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder
ORPHA:399572: Rare male infertility due to gonadotropic axis disorder
ORPHA:399572: Rare male infertility due to hypothalamic-pituitary-testicular axis disorder
ORPHA:399584: Rare male infertility due to adrenal disorder
ORPHA:399685: Rare male infertility due to testicular endocrine disorder
ORPHA:399764: Male infertility due to gonadal dysgenesis or sperm disorder
ORPHA:399764: Male infertility due to testicular dysgenesis or sperm disorder
ORPHA:399771: Male infertility due to sperm disorder
ORPHA:399775: Male infertility with spermatogenesis disorder
ORPHA:399786: Male infertility with spermatogenesis disorder due to single gene mutation
ORPHA:399805: Male infertility with azoospermia or oligozoospermia due to single gene mutation
ORPHA:399808: Male infertility with teratozoospermia due to single gene mutation
ORPHA:399813: Male infertility due to sperm motility disorder
ORPHA:399813: Male infertility due to asthenozoospermia
ORPHA:399824: Rare disorder with obstructive azoospermia
ORPHA:399824: Rare disorder due to impaired sperm transport
ORPHA:399831: Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder
ORPHA:399831: Rare female infertility due to gonadotropic axis disorder
ORPHA:399831: Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder
ORPHA:399839: Rare female infertility due to a congenital hypogonadotropic hypogonadism
ORPHA:399846: Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
ORPHA:399849: Rare female infertility due to an adrenal disorder
ORPHA:399853: Rare female infertility due to an anomaly of ovarian function
ORPHA:399877: Rare female infertility due to gonadal dysgenesis
ORPHA:399877: Rare female infertility due to ovarian dysgenesis
ORPHA:399882: Rare female infertility due to an implantation defect
ORPHA:399980: Rare genetic male infertility
ORPHA:399983: Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
ORPHA:399983: Rare male infertility due to gonadotropic axis disorder of genetic origin
ORPHA:399983: Rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin
ORPHA:399994: Rare male infertility due to adrenal disorder of genetic origin
ORPHA:399998: Male infertility due to obstructive azoospermia of genetic origin
ORPHA:399998: Male infertility due to impaired sperm transport of genetic origin
ORPHA:40: Acromesomelic dysplasia, Maroteaux type
ORPHA:400: Cystic echinococcosis
ORPHA:400: Hydatid cyst
ORPHA:400: Hydatid disease
ORPHA:400: Hydatidosis
ORPHA:400003: Rare genetic disorder with obstructive azoospermia
ORPHA:400003: Rare genetic disorder due to impaired sperm transport
ORPHA:400008: Rare genetic female infertility
ORPHA:400011: Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
ORPHA:400011: Rare female infertility due to gonadotropic axis disorder of genetic origin
ORPHA:400011: Rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin
ORPHA:400018: Rare female infertility due to adrenal disorder of genetic origin
ORPHA:400022: Rare female infertility due to an anomaly of ovarian function of genetic origin
ORPHA:400025: Female infertility due to an implantation defect of genetic origin
ORPHA:401: Hymenolepiasis
ORPHA:401764: Pancytopenia-developmental delay syndrome
ORPHA:401764: Trilineage bone marrow failure-developmental delay syndrome
ORPHA:401768: Proximal myopathy with extrapyramidal signs
ORPHA:401777: Optic atrophy-intellectual disability syndrome
ORPHA:401777: BBSOAS
ORPHA:401777: Bosch-Boonstra-Schaaf optic atrophy syndrome
ORPHA:401780: Autosomal recessive spastic paraplegia type 61
ORPHA:401780: SPG61
ORPHA:401785: Autosomal recessive spastic paraplegia type 62
ORPHA:401785: SPG62
ORPHA:401795: Autosomal recessive spastic paraplegia type 59
ORPHA:401795: SPG59
ORPHA:401800: Autosomal recessive spastic paraplegia type 60
ORPHA:401800: SPG60
ORPHA:401805: Autosomal recessive spastic paraplegia type 63
ORPHA:401805: SPG63
ORPHA:401810: Autosomal recessive spastic paraplegia type 64
ORPHA:401810: SPG64
ORPHA:401815: Autosomal recessive spastic paraplegia type 66
ORPHA:401815: SPG66
ORPHA:401820: Autosomal recessive spastic paraplegia type 67
ORPHA:401820: SPG67
ORPHA:401830: Autosomal recessive spastic paraplegia type 69
ORPHA:401830: SPG69
ORPHA:401835: Autosomal recessive spastic paraplegia type 70
ORPHA:401835: SPG70
ORPHA:401840: Autosomal recessive spastic paraplegia type 71
ORPHA:401840: SPG71
ORPHA:401849: Autosomal spastic paraplegia type 72
ORPHA:401849: SPG72
ORPHA:401854: Lipoic acid biosynthesis defect
ORPHA:401854: Lipoate biosynthesis defect
ORPHA:401859: Lipoic acid synthetase deficiency
ORPHA:401862: Lipoyl transferase 1 deficiency
ORPHA:401866: Childhood-onset spasticity with hyperglycinemia
ORPHA:401866: Childhood-onset spasticity with variant non-ketotic hyperglycinemia