TaoMedAI/RareMedData huggingface dataset:
Phenotype: Abnormal circulating phytanic acid concentration (HP:0010965)
Associated genes and diseases:
gene_symbol: PEX26
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX19
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX2
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: PEX2
disease_id: OMIM:614867
disease_name: PEROXISOME BIOGENESIS DISORDER 5B
gene_symbol: PEX3
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX16
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX16
disease_id: OMIM:614877
disease_name: PEROXISOME BIOGENESIS DISORDER 8B
gene_symbol: PEX6
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX11B
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX5
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX1
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX12
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX12
disease_id: OMIM:266510
disease_name: PEROXISOME BIOGENESIS DISORDER 3B
gene_symbol: PEX13
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX14
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: AMACR
disease_id: OMIM:614307
disease_name: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY
gene_symbol: PEX7
disease_id: OMIM:614879
disease_name: PEROXISOME BIOGENESIS DISORDER 9B
gene_symbol: PEX7
disease_id: OMIM:266500
disease_name: REFSUM DISEASE, CLASSIC
gene_symbol: PEX7
disease_id: OMIM:215100
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
gene_symbol: PHYH
disease_id: OMIM:266500
disease_name: REFSUM DISEASE, CLASSIC
gene_symbol: PEX10
disease_id: ORPHA:247815
disease_name: Autosomal recessive ataxia due to PEX10 deficiency
Mild peroxisomal disorder due to PEX10 deficiency
Phenotype: Abnormality of glycolipid metabolism (HP:0010969)
Associated genes and diseases:
gene_symbol: HEXA
disease_id: OMIM:272800
disease_name: TAY-SACHS DISEASE
gene_symbol: GM2A
disease_id: OMIM:272750
disease_name: GM2-GANGLIOSIDOSIS, AB VARIANT
gene_symbol: ARSA
disease_id: ORPHA:309271
disease_name: Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form
MLD, adult form
gene_symbol: ARSA
disease_id: ORPHA:309263
disease_name: Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
gene_symbol: PSAP
disease_id: ORPHA:309271
disease_name: Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form
MLD, adult form
gene_symbol: PSAP
disease_id: OMIM:611721
disease_name: COMBINED SAPOSIN DEFICIENCY
gene_symbol: PSAP
disease_id: ORPHA:309263
disease_name: Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
gene_symbol: HEXB
disease_id: OMIM:268800
disease_name: SANDHOFF DISEASE
gene_symbol: GLA
disease_id: ORPHA:324
disease_name: Fabry disease
Alpha-galactosidase A deficiency
Anderson-Fabry disease
FD
gene_symbol: MCOLN1
disease_id: ORPHA:578
disease_name: Mucolipidosis type IV
gene_symbol: MCOLN1
disease_id: OMIM:252650
disease_name: MUCOLIPIDOSIS IV
gene_symbol: KHK
disease_id: ORPHA:2056
disease_name: Essential fructosuria
Fructokinase deficiency
Ketohexokinase deficiency
gene_symbol: OBSCN
disease_id: ORPHA:99845
disease_name: Genetic recurrent myoglobinuria
gene_symbol: LPIN1
disease_id: ORPHA:99845
disease_name: Genetic recurrent myoglobinuria
gene_symbol: MT-CO1
disease_id: ORPHA:99845
disease_name: Genetic recurrent myoglobinuria
gene_symbol: MT-CO3
disease_id: ORPHA:99845
disease_name: Genetic recurrent myoglobinuria
Phenotype: Abnormal phagocytosis (HP:0010977)
Associated genes and diseases:
gene_symbol: NCF2
disease_id: OMIM:233710
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2
gene_symbol: CYBB
disease_id: OMIM:306400
disease_name: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
gene_symbol: NCF1
disease_id: OMIM:233700
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1
gene_symbol: CYBA
disease_id: OMIM:233690
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4
gene_symbol: SLC37A4
disease_id: OMIM:232240
disease_name: GLYCOGEN STORAGE DISEASE Ic
Phenotype: Polygenic inheritance (HP:0010982)
Associated genes and diseases:
gene_symbol: HTR2A
disease_id: OMIM:608516
disease_name: MAJOR DEPRESSIVE DISORDER
gene_symbol: FKBP5
disease_id: OMIM:608516
disease_name: MAJOR DEPRESSIVE DISORDER
gene_symbol: TPH2
disease_id: OMIM:608516
disease_name: MAJOR DEPRESSIVE DISORDER
gene_symbol: STOX1
disease_id: OMIM:609404
disease_name: PREECLAMPSIA/ECLAMPSIA 4
gene_symbol: ADRB3
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: ENPP1
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: UCP3
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: POMC
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: NR0B2
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: CARTPT
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: GHRL
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: SDC3
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: AGRP
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: PPARG
disease_id: OMIM:601665
disease_name: OBESITY
gene_symbol: TP53
disease_id: OMIM:607107
disease_name: NASOPHARYNGEAL CARCINOMA
gene_symbol: NLRP1
disease_id: OMIM:606579
disease_name: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1
gene_symbol: BMP4
disease_id: OMIM:600625
disease_name: OROFACIAL CLEFT 11
gene_symbol: NOD2
disease_id: OMIM:266600
disease_name: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1
gene_symbol: IL6
disease_id: OMIM:266600
disease_name: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1
gene_symbol: GNB1
disease_id: OMIM:613065
disease_name: LEUKEMIA, ACUTE LYMPHOBLASTIC
gene_symbol: TAL1
disease_id: OMIM:613065
disease_name: LEUKEMIA, ACUTE LYMPHOBLASTIC
gene_symbol: TAL2
disease_id: OMIM:613065
disease_name: LEUKEMIA, ACUTE LYMPHOBLASTIC
gene_symbol: BAX
disease_id: OMIM:613065
disease_name: LEUKEMIA, ACUTE LYMPHOBLASTIC
gene_symbol: FLT3
disease_id: OMIM:613065
disease_name: LEUKEMIA, ACUTE LYMPHOBLASTIC
gene_symbol: NBN
disease_id: OMIM:613065
disease_name: LEUKEMIA, ACUTE LYMPHOBLASTIC
gene_symbol: NUP214
disease_id: OMIM:613065
disease_name: LEUKEMIA, ACUTE LYMPHOBLASTIC
gene_symbol: BCR
disease_id: OMIM:613065
disease_name: LEUKEMIA, ACUTE LYMPHOBLASTIC
gene_symbol: APOL1
disease_id: OMIM:612551
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO
gene_symbol: ABCG8
disease_id: OMIM:611465
disease_name: GALLBLADDER DISEASE 4
gene_symbol: A2ML1
disease_id: OMIM:166760
disease_name: OTITIS MEDIA, SUSCEPTIBILITY TO
gene_symbol: CFH
disease_id: OMIM:610698
disease_name: MACULAR DEGENERATION, AGE-RELATED, 4
gene_symbol: HTRA1
disease_id: OMIM:610149
disease_name: MACULAR DEGENERATION, AGE-RELATED, 7
gene_symbol: CST3
disease_id: OMIM:611953
disease_name: MACULAR DEGENERATION, AGE-RELATED, 11
gene_symbol: IRF6
disease_id: OMIM:608864
disease_name: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
gene_symbol: SERPINH1
disease_id: OMIM:610504
disease_name: PRETERM PREMATURE RUPTURE OF THE MEMBRANES
Phenotype: Oligogenic inheritance (HP:0010983)
Associated genes and diseases:
gene_symbol: FLRT3
disease_id: OMIM:615271
disease_name: HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA
Phenotype: Digenic inheritance (HP:0010984)
Associated genes and diseases:
gene_symbol: TYMS
disease_id: OMIM:620040
disease_name: DYSKERATOSIS CONGENITA, DIGENIC
gene_symbol: ADH5
disease_id: OMIM:619151
disease_name: AMED SYNDROME, DIGENIC
gene_symbol: DYNC2H1
disease_id: OMIM:613091
disease_name: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY
gene_symbol: CLCNKA
disease_id: OMIM:613090
disease_name: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
gene_symbol: CLCNKB
disease_id: OMIM:613090
disease_name: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
gene_symbol: GDF6
disease_id: OMIM:613703
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
gene_symbol: GDF3
disease_id: OMIM:613703
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
gene_symbol: SMCHD1
disease_id: OMIM:158901
disease_name: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2
gene_symbol: LRIF1
disease_id: OMIM:619477
disease_name: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC
gene_symbol: DNMT3B
disease_id: OMIM:619478
disease_name: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC
gene_symbol: GJB2
disease_id: OMIM:220290
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 1A
gene_symbol: GJB3
disease_id: OMIM:220290
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 1A
gene_symbol: GJB6
disease_id: OMIM:220290
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 1A
gene_symbol: SLCO1B3
disease_id: OMIM:237450
disease_name: HYPERBILIRUBINEMIA, ROTOR TYPE
gene_symbol: SLCO1B1
disease_id: OMIM:237450
disease_name: HYPERBILIRUBINEMIA, ROTOR TYPE
gene_symbol: NEK1
disease_id: OMIM:263520
disease_name: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY
Phenotype: Dumbbell-shaped humerus (HP:0005009)
Associated genes and diseases:
gene_symbol: CCN2
disease_id: OMIM:211350
disease_name: KYPHOMELIC DYSPLASIA
Phenotype: Large joint dislocations (HP:0005008)
Associated genes and diseases:
gene_symbol: B3GALT6
disease_id: ORPHA:536467
disease_name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
B3GALT6-related spEDS
B3GALT6-related spondylodysplastic EDS
Beta3GalT6-deficient EDS
Ehlers-Danlos syndrome progeroid type 2
spEDS-B3GALT6
gene_symbol: KIF22
disease_id: OMIM:603546
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
gene_symbol: FLNB
disease_id: ORPHA:503
disease_name: Larsen syndrome
Phenotype: Femoral bowing present at birth, straightening with time (HP:0005005)
Associated genes and diseases:
gene_symbol: COL1A1
disease_id: OMIM:166220
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IV
gene_symbol: COL1A2
disease_id: OMIM:166220
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IV
Phenotype: Recurrent patellar dislocation (HP:0005001)
Associated genes and diseases:
gene_symbol: MAB21L2
disease_id: OMIM:615877
disease_name: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
gene_symbol: RYR1
disease_id: ORPHA:178145
disease_name: Moderate multiminicore disease with hand involvement
gene_symbol: SCARF2
disease_id: OMIM:600920
disease_name: VAN DEN ENDE-GUPTA SYNDROME
gene_symbol: PIEZO2
disease_id: OMIM:108145
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 5
gene_symbol: BPNT2
disease_id: OMIM:614078
disease_name: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE
gene_symbol: PRKACB
disease_id: OMIM:619143
disease_name: CARDIOACROFACIAL DYSPLASIA 2
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:618000
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2
Phenotype: Osteomyelitis leading to amputation due to slow healing fractures (HP:0005010)
Associated genes and diseases:
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: MTAP
disease_id: OMIM:112250
disease_name: DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA
Phenotype: Stress urinary incontinence (HP:0010992)
Associated genes and diseases:
gene_symbol: NOTCH3
disease_id: ORPHA:136
disease_name: Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
CADASIL
Hereditary multi-infarct dementia
Phenotype: Chromosomal breakage induced by ionizing radiation (HP:0010997)
Associated genes and diseases:
gene_symbol: RAD50
disease_id: OMIM:613078
disease_name: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER
gene_symbol: BAP1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: NF2
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCB1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PDGFB
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TRAF7
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMO
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: AKT1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PIK3CA
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TERT
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SUFU
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCE1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: RNF168
disease_id: ORPHA:420741
disease_name: RIDDLE syndrome
RNF168 deficiency
Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
Phenotype: Increased susceptibility to spontaneous sister chromatid exchange (HP:0010998)
Associated genes and diseases:
gene_symbol: TOP3A
disease_id: OMIM:618097
disease_name: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2
Phenotype: Aplasia of the optic tract (HP:0010999)
Associated genes and diseases:
gene_symbol: BMP4
disease_id: OMIM:607932
disease_name: MICROPHTHALMIA, SYNDROMIC 6
Phenotype: Enlarged metaphyses (HP:0003051)
Associated genes and diseases:
gene_symbol: EXTL3
disease_id: ORPHA:508533
disease_name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
gene_symbol: COL2A1
disease_id: ORPHA:485
disease_name: Kniest dysplasia
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: CHST3
disease_id: OMIM:245600
disease_name: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
gene_symbol: B3GAT3
disease_id: OMIM:245600
disease_name: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
gene_symbol: RPL13
disease_id: OMIM:618728
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE
gene_symbol: TRAPPC2
disease_id: ORPHA:93284
disease_name: Spondyloepiphyseal dysplasia tarda
gene_symbol: SFRP4
disease_id: ORPHA:3005
disease_name: Pyle disease
Metaphyseal dysplasia, Pyle type
SFRP4-related Pyle disease
Phenotype: Polyarticular chondrocalcinosis (HP:0005017)
Associated genes and diseases:
gene_symbol: ANKH
disease_id: OMIM:123000
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: ANKH
disease_id: OMIM:118600
disease_name: CHONDROCALCINOSIS 2
Phenotype: Mesomelic arm shortening (HP:0005011)
Associated genes and diseases:
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: FLNA
disease_id: OMIM:300244
disease_name: TERMINAL OSSEOUS DYSPLASIA
gene_symbol: EIF4A3
disease_id: ORPHA:3102
disease_name: Richieri Costa-Pereira syndrome
Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
gene_symbol: EIF4A3
disease_id: OMIM:268305
disease_name: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES
gene_symbol: ESCO2
disease_id: ORPHA:3103
disease_name: Roberts syndrome
Pseudothalidomide syndrome
Roberts-SC phocomelia syndrome
SC phocomelia
SC pseudothalidomide syndrome
gene_symbol: SHOX
disease_id: OMIM:249700
disease_name: LANGER MESOMELIC DYSPLASIA
Phenotype: Diaphyseal undertubulation (HP:0005019)
Associated genes and diseases:
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: GUSB
disease_id: ORPHA:584
disease_name: Mucopolysaccharidosis type 7
Beta-glucuronidase deficiency
MPS7
MPSVII
Mucopolysaccharidosis type VII
Sly disease
gene_symbol: SHOX
disease_id: ORPHA:240
disease_name: Léri-Weill dyschondrosteosis
Léri-Weill syndrome
gene_symbol: PTDSS1
disease_id: OMIM:151050
disease_name: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
gene_symbol: LRP4
disease_id: ORPHA:3152
disease_name: Sclerosteosis
Cortical hyperostosis-syndactyly syndrome
gene_symbol: SOST
disease_id: ORPHA:3152
disease_name: Sclerosteosis
Cortical hyperostosis-syndactyly syndrome
gene_symbol: SOST
disease_id: ORPHA:3416
disease_name: Hyperostosis corticalis generalisata
Hyperphosphatasemia tarda
Van Buchem disease
gene_symbol: SOST
disease_id: ORPHA:1513
disease_name: Craniodiaphyseal dysplasia
gene_symbol: LRP5
disease_id: ORPHA:2790
disease_name: Endosteal hyperostosis, Worth type
Autosomal dominant osteosclerosis, Worth type
Worth syndrome
gene_symbol: LRP5
disease_id: ORPHA:3416
disease_name: Hyperostosis corticalis generalisata
Hyperphosphatasemia tarda
Van Buchem disease
gene_symbol: RMRP
disease_id: ORPHA:175
disease_name: Cartilage-hair hypoplasia
Autosomal recessive metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, McKusick type
gene_symbol: LIFR
disease_id: OMIM:601559
disease_name: STUVE-WIEDEMANN SYNDROME
gene_symbol: IDUA
disease_id: OMIM:607014
disease_name: HURLER SYNDROME
gene_symbol: ERI1
disease_id: OMIM:620663
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE
gene_symbol: PPIB
disease_id: OMIM:259440
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IX
gene_symbol: INPPL1
disease_id: ORPHA:3144
disease_name: Schneckenbecken dysplasia
Chondrodysplasia with snail-like pelvis
SLC35D1-CDG
gene_symbol: SLC35D1
disease_id: ORPHA:3144
disease_name: Schneckenbecken dysplasia
Chondrodysplasia with snail-like pelvis
SLC35D1-CDG
gene_symbol: TBXAS1
disease_id: ORPHA:1802
disease_name: Ghosal hematodiaphyseal dysplasia
Diaphyseal dysplasia-anemia syndrome
Ghosal syndrome
gene_symbol: SP7
disease_id: ORPHA:1513
disease_name: Craniodiaphyseal dysplasia
Phenotype: Patellar hypoplasia (HP:0003065)
Associated genes and diseases:
gene_symbol: GJB6
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB2
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: LMX1B
disease_id: ORPHA:2614
disease_name: Nail-patella syndrome
Onychoosteodysplasia
Turner-Kieser syndrome
gene_symbol: LMX1B
disease_id: OMIM:161200
disease_name: NAIL-PATELLA SYNDROME
gene_symbol: LMX1B
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: RECQL4
disease_id: ORPHA:221016
disease_name: Rothmund-Thomson syndrome type 2
Poikiloderma of Rothmund-Thomson type 2
RTS2
gene_symbol: RECQL4
disease_id: OMIM:218600
disease_name: BALLER-GEROLD SYNDROME
gene_symbol: TBX4
disease_id: OMIM:147891
disease_name: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION
gene_symbol: TBX4
disease_id: ORPHA:261279
disease_name: 17q23.1q23.2 microdeletion syndrome
Del(17)(q23.1q23.2)
Monosomy 17q23.1q23.2
gene_symbol: ZSWIM6
disease_id: ORPHA:1827
disease_name: Acromelic frontonasal dysplasia
AFND
Acromelic frontonasal dysostosis
Toriello syndrome
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
gene_symbol: PITX1
disease_id: OMIM:119800
disease_name: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY
gene_symbol: UBR7
disease_id: OMIM:619189
disease_name: LI-CAMPEAU SYNDROME
gene_symbol: STXBP1
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: DONSON
disease_id: OMIM:617604
disease_name: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: PRMT7
disease_id: ORPHA:464288
disease_name: Short stature-brachydactyly-obesity-global developmental delay syndrome
SBIDDS
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
gene_symbol: ORC6
disease_id: OMIM:613803
disease_name: MEIER-GORLIN SYNDROME 3
gene_symbol: ANAPC1
disease_id: ORPHA:221008
disease_name: Rothmund-Thomson syndrome type 1
Poikiloderma of Rothmund-Thomson type 1
RTS1
Phenotype: Bilateral elbow dislocations (HP:0005021)
Associated genes and diseases:
gene_symbol: CHST3
disease_id: OMIM:245600
disease_name: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
gene_symbol: B3GAT3
disease_id: OMIM:245600
disease_name: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
gene_symbol: MAFB
disease_id: OMIM:166300
disease_name: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME
Phenotype: Lateral femoral bowing (HP:0005090)
Associated genes and diseases:
gene_symbol: TNFRSF11B
disease_id: OMIM:239000
disease_name: PAGET DISEASE OF BONE 5, JUVENILE-ONSET
gene_symbol: FLNA
disease_id: OMIM:311300
disease_name: OTOPALATODIGITAL SYNDROME, TYPE I
Phenotype: Hypoplastic distal humeri (HP:0005025)
Associated genes and diseases:
gene_symbol: FZD2
disease_id: OMIM:164745
disease_name: OMODYSPLASIA 2
gene_symbol: GPC6
disease_id: OMIM:258315
disease_name: OMODYSPLASIA 1
gene_symbol: GPC6
disease_id: ORPHA:93329
disease_name: Autosomal recessive omodysplasia
Micromelic dysplasia-dislocation of radius syndrome
Phenotype: Mesomelic/rhizomelic limb shortening (HP:0005026)
Associated genes and diseases:
gene_symbol: ASXL1
disease_id: OMIM:605039
disease_name: BOHRING-OPITZ SYNDROME
gene_symbol: SHOX
disease_id: ORPHA:2632
disease_name: Langer mesomelic dysplasia
Mesomelic dwarfism, Langer type
Phenotype: Widened proximal tibial metaphyses (HP:0005028)
Associated genes and diseases:
gene_symbol: COL10A1
disease_id: ORPHA:174
disease_name: Metaphyseal chondrodysplasia, Schmid type
gene_symbol: BMPR1B
disease_id: OMIM:609441
disease_name: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
Phenotype: Dermatan sulfate excretion in urine (HP:0008301)
Associated genes and diseases:
gene_symbol: GUSB
disease_id: OMIM:253220
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VII
gene_symbol: IDUA
disease_id: OMIM:607014
disease_name: HURLER SYNDROME
gene_symbol: IDUA
disease_id: OMIM:607015
disease_name: HURLER-SCHEIE SYNDROME
gene_symbol: ARSK
disease_id: OMIM:619698
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE X
gene_symbol: IDS
disease_id: OMIM:309900
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE II
gene_symbol: ARSB
disease_id: OMIM:253200
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VI