TaoMedAI/RareMedData huggingface dataset:
Phenotype: Osteosclerosis of the base of the skull (HP:0005746)
Associated genes and diseases:
gene_symbol: CLCN7
disease_id: ORPHA:53
disease_name: Albers-Schönberg osteopetrosis
Osteopetrosis autosomal dominant type 2
gene_symbol: CLCN7
disease_id: ORPHA:210110
disease_name: Intermediate osteopetrosis
Autosomal recessive intermediate osteopetrosis
gene_symbol: TCIRG1
disease_id: ORPHA:210110
disease_name: Intermediate osteopetrosis
Autosomal recessive intermediate osteopetrosis
gene_symbol: PLEKHM1
disease_id: ORPHA:210110
disease_name: Intermediate osteopetrosis
Autosomal recessive intermediate osteopetrosis
gene_symbol: SLC39A14
disease_id: OMIM:144755
disease_name: HYPEROSTOSIS CRANIALIS INTERNA
Phenotype: Congenital foot contractures (HP:0005745)
Associated genes and diseases:
gene_symbol: GFM2
disease_id: ORPHA:565624
disease_name: Combined oxidative phosphorylation defect type 39
COXPD39
GFM2-related combined oxidative phosphorylation defect
gene_symbol: ZC4H2
disease_id: ORPHA:3454
disease_name: Wieacker-Wolff syndrome
Foot contractures-muscle atrophy-oculomotor apraxia syndrome
gene_symbol: ZC4H2
disease_id: OMIM:314580
disease_name: WIEACKER-WOLFF SYNDROME
Phenotype: Disproportionate shortening of the tibia (HP:0005766)
Associated genes and diseases:
gene_symbol: NEK1
disease_id: OMIM:263520
disease_name: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY
Phenotype: Sacral meningocele (HP:0005765)
Associated genes and diseases:
gene_symbol: VANGL1
disease_id: OMIM:600145
disease_name: SACRAL DEFECT WITH ANTERIOR MENINGOCELE
gene_symbol: MNX1
disease_id: ORPHA:1552
disease_name: Currarino syndrome
Currarino triad
gene_symbol: MNX1
disease_id: OMIM:176450
disease_name: CURRARINO SYNDROME
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated genes and diseases:
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: MBTPS2
disease_id: OMIM:301014
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIX
gene_symbol: CCDC134
disease_id: OMIM:619795
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XXII
gene_symbol: ACTA1
disease_id: ORPHA:171433
disease_name: Intermediate nemaline myopathy
gene_symbol: ACTA1
disease_id: ORPHA:171430
disease_name: Severe congenital nemaline myopathy
gene_symbol: NEB
disease_id: ORPHA:171433
disease_name: Intermediate nemaline myopathy
gene_symbol: NEB
disease_id: ORPHA:171430
disease_name: Severe congenital nemaline myopathy
gene_symbol: KLHL41
disease_id: ORPHA:171433
disease_name: Intermediate nemaline myopathy
gene_symbol: KLHL41
disease_id: ORPHA:171430
disease_name: Severe congenital nemaline myopathy
gene_symbol: TPM3
disease_id: ORPHA:171433
disease_name: Intermediate nemaline myopathy
gene_symbol: KLHL40
disease_id: ORPHA:171430
disease_name: Severe congenital nemaline myopathy
gene_symbol: LMOD3
disease_id: ORPHA:171430
disease_name: Severe congenital nemaline myopathy
gene_symbol: TAPT1
disease_id: OMIM:616897
disease_name: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
gene_symbol: CRTAP
disease_id: OMIM:610682
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VII
gene_symbol: MESD
disease_id: OMIM:618644
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XX
gene_symbol: ASCC1
disease_id: OMIM:616867
disease_name: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2
gene_symbol: COL1A1
disease_id: OMIM:166210
disease_name: OSTEOGENESIS IMPERFECTA, TYPE II
gene_symbol: COL1A1
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: COL1A2
disease_id: OMIM:166210
disease_name: OSTEOGENESIS IMPERFECTA, TYPE II
gene_symbol: COL1A2
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: TRIP4
disease_id: OMIM:616866
disease_name: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1
gene_symbol: PPIB
disease_id: OMIM:259440
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IX
gene_symbol: P3H1
disease_id: OMIM:610915
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VIII
Phenotype: Absent middle phalanx of 2nd finger (HP:0009576)
Associated genes and diseases:
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: NSDHL
disease_id: OMIM:308050
disease_name: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
Phenotype: Basilar impression (HP:0005758)
Associated genes and diseases:
gene_symbol: DKK1
disease_id: ORPHA:268882
disease_name: Arnold-Chiari malformation type I
Arnold-Chiari malformation type 1
Chiari malformation type 1
Chiari malformation type I
gene_symbol: NOTCH2
disease_id: OMIM:102500
disease_name: HAJDU-CHENEY SYNDROME
gene_symbol: ZBTB20
disease_id: OMIM:259050
disease_name: PRIMROSE SYNDROME
gene_symbol: COL1A1
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
gene_symbol: COL1A2
disease_id: OMIM:259420
disease_name: OSTEOGENESIS IMPERFECTA, TYPE III
Phenotype: Neonatal epiphyseal stippling (HP:0005756)
Associated genes and diseases:
gene_symbol: EBP
disease_id: ORPHA:35173
disease_name: X-linked dominant chondrodysplasia punctata
CDPX2
CDPXD
CPXD
Chondrodystrophia calcificans congenita
Conradi-Hünermann-Happle syndrome
X-linked chondrodysplasia punctata type 2
gene_symbol: PRKAR1A
disease_id: OMIM:101800
disease_name: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
Phenotype: Spinal stenosis with reduced interpedicular distance (HP:0005733)
Associated genes and diseases:
gene_symbol: FGFR3
disease_id: OMIM:100800
disease_name: ACHONDROPLASIA
Phenotype: Cortical irregularity (HP:0005731)
Associated genes and diseases:
gene_symbol: COL1A1
disease_id: ORPHA:1310
disease_name: Caffey disease
Infantile cortical hyperostosis
gene_symbol: COL1A1
disease_id: OMIM:114000
disease_name: CAFFEY DISEASE
gene_symbol: SH3PXD2B
disease_id: OMIM:249420
disease_name: FRANK-TER HAAR SYNDROME
Phenotype: Inferior cerebellar vermis hypoplasia (HP:0007068)
Associated genes and diseases:
gene_symbol: PIEZO2
disease_id: OMIM:248700
disease_name: MARDEN-WALKER SYNDROME
gene_symbol: L1CAM
disease_id: OMIM:304100
disease_name: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
gene_symbol: BRF1
disease_id: ORPHA:444072
disease_name: Cerebellar-facial-dental syndrome
Cerebellofaciodental syndrome
gene_symbol: BMP4
disease_id: OMIM:607932
disease_name: MICROPHTHALMIA, SYNDROMIC 6
gene_symbol: BMP4
disease_id: ORPHA:139471
disease_name: Microphthalmia with brain and digit anomalies
Bakrania-Ragge syndrome
MCOPS6
Syndromic microphthalmia type 6
gene_symbol: TRAPPC9
disease_id: OMIM:613192
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13
gene_symbol: KIAA0753
disease_id: OMIM:619476
disease_name: JOUBERT SYNDROME 38
gene_symbol: ASXL3
disease_id: OMIM:615485
disease_name: BAINBRIDGE-ROPERS SYNDROME
gene_symbol: INTS1
disease_id: OMIM:618571
disease_name: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES
gene_symbol: MDH1
disease_id: OMIM:618959
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88
gene_symbol: VLDLR
disease_id: OMIM:224050
disease_name: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1
gene_symbol: GEMIN4
disease_id: OMIM:617913
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
gene_symbol: MED11
disease_id: OMIM:620327
disease_name: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
gene_symbol: GRM1
disease_id: OMIM:614831
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13
gene_symbol: LAMA1
disease_id: ORPHA:370022
disease_name: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Poretti-Boltshauser syndrome
gene_symbol: EBF3
disease_id: ORPHA:96148
disease_name: Distal deletion 10q syndrome
Deletion 10qter
Distal monosomy 10q
Monosomy 10qter
Telomeric deletion 10q
gene_symbol: ACBD6
disease_id: OMIM:620785
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES
Phenotype: Calcific stippling (HP:0002832)
Associated genes and diseases:
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: PEX5
disease_id: OMIM:214110
disease_name: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
gene_symbol: EBP
disease_id: OMIM:302960
disease_name: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
gene_symbol: HSD17B4
disease_id: OMIM:261515
disease_name: D-BIFUNCTIONAL PROTEIN DEFICIENCY
gene_symbol: GNPAT
disease_id: OMIM:222765
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2
Phenotype: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated genes and diseases:
gene_symbol: DHCR7
disease_id: OMIM:270400
disease_name: SMITH-LEMLI-OPITZ SYNDROME
gene_symbol: MECP2
disease_id: OMIM:300260
disease_name: LUBS X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: RPL10
disease_id: OMIM:300998
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
gene_symbol: TRRAP
disease_id: OMIM:618454
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM
gene_symbol: SCARF2
disease_id: OMIM:600920
disease_name: VAN DEN ENDE-GUPTA SYNDROME
gene_symbol: IQCE
disease_id: OMIM:617642
disease_name: POLYDACTYLY, POSTAXIAL, TYPE A7
gene_symbol: PRKD1
disease_id: OMIM:617364
disease_name: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
gene_symbol: NECTIN4
disease_id: OMIM:613573
disease_name: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
gene_symbol: MCTP2
disease_id: ORPHA:1596
disease_name: Distal deletion 15q syndrome
15q26 deletion syndrome
Distal monosomy 15q
Monosomy 15q26
Telomeric 15q deletion syndrome
gene_symbol: CAMTA1
disease_id: OMIM:614756
disease_name: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
gene_symbol: CACNA1C
disease_id: OMIM:620029
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES
gene_symbol: FGF16
disease_id: OMIM:309630
disease_name: METACARPAL 4-5 FUSION
gene_symbol: SMOC1
disease_id: OMIM:206920
disease_name: MICROPHTHALMIA WITH LIMB ANOMALIES
gene_symbol: EBF3
disease_id: ORPHA:96148
disease_name: Distal deletion 10q syndrome
Deletion 10qter
Distal monosomy 10q
Monosomy 10qter
Telomeric deletion 10q
gene_symbol: DEAF1
disease_id: OMIM:615828
disease_name: VULTO-VAN SILFHOUT-DE VRIES SYNDROME
gene_symbol: TP63
disease_id: OMIM:129400
disease_name: RAPP-HODGKIN SYNDROME
gene_symbol: ATP9A
disease_id: OMIM:620242
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES
gene_symbol: GABRA3
disease_id: OMIM:301091
disease_name: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES
gene_symbol: SC5D
disease_id: OMIM:607330
disease_name: LATHOSTEROLOSIS
Phenotype: Bilateral triphalangeal thumbs (HP:0005707)
Associated genes and diseases:
gene_symbol: FGFR2
disease_id: OMIM:149730
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME
gene_symbol: ATP6V1B2
disease_id: OMIM:124480
disease_name: DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT
gene_symbol: PIGF
disease_id: OMIM:619356
disease_name: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
Phenotype: Bifid distal phalanx of the thumb (HP:0009611)
Associated genes and diseases:
gene_symbol: PPP2R3C
disease_id: OMIM:618419
disease_name: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY
gene_symbol: KIF7
disease_id: OMIM:200990
disease_name: ACROCALLOSAL SYNDROME
gene_symbol: PAH
disease_id: ORPHA:2209
disease_name: Maternal phenylketonuria
Hyperphenylalaninemic embryopathy
Maternal PKU
Maternal hyperphenylalaninemia
Phenylketonuric embryopathy
gene_symbol: CANT1
disease_id: OMIM:251450
disease_name: DESBUQUOIS DYSPLASIA 1
gene_symbol: DVL1
disease_id: OMIM:616331
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
Phenotype: Multiple enchondromatosis (HP:0005701)
Associated genes and diseases:
gene_symbol: PTPN11
disease_id: OMIM:156250
disease_name: METACHONDROMATOSIS
gene_symbol: PTPN11
disease_id: ORPHA:2499
disease_name: Metachondromatosis
gene_symbol: COL2A1
disease_id: ORPHA:85198
disease_name: Dysspondyloenchondromatosis
gene_symbol: POLR1B
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: POLR1C
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: POLR1D
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: TCOF1
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: IDH2
disease_id: ORPHA:163634
disease_name: Maffucci syndrome
Enchondromatosis Spranger type II
Multiple Enchondromatosis type II
Multiple Enchondromatosis, Maffucci Type
gene_symbol: IDH2
disease_id: ORPHA:296
disease_name: Ollier disease
Enchondromatosis Spranger type I
Multiple Enchondromatosis type I
Multiple Enchondromatosis, Ollier type
gene_symbol: IDH1
disease_id: ORPHA:163634
disease_name: Maffucci syndrome
Enchondromatosis Spranger type II
Multiple Enchondromatosis type II
Multiple Enchondromatosis, Maffucci Type
gene_symbol: IDH1
disease_id: ORPHA:296
disease_name: Ollier disease
Enchondromatosis Spranger type I
Multiple Enchondromatosis type I
Multiple Enchondromatosis, Ollier type
gene_symbol: IDH1
disease_id: ORPHA:99646
disease_name: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
MC-HGA
gene_symbol: PTH1R
disease_id: ORPHA:296
disease_name: Ollier disease
Enchondromatosis Spranger type I
Multiple Enchondromatosis type I
Multiple Enchondromatosis, Ollier type
gene_symbol: MAD1L1
disease_id: OMIM:620189
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION
Phenotype: Hyperextensible thumb (HP:0005722)
Associated genes and diseases:
gene_symbol: USP9X
disease_id: ORPHA:480880
disease_name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
Phenotype: Shortening of all metacarpals (HP:0005720)
Associated genes and diseases:
gene_symbol: COMP
disease_id: ORPHA:750
disease_name: Pseudoachondroplasia
Pseudoachondroplastic dysplasia
Pseudoachondroplastic spondyloepiphyseal dysplasia
Phenotype: Flattened knee epiphyses (HP:0005715)
Associated genes and diseases:
gene_symbol: COL9A2
disease_id: OMIM:600204
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2
Phenotype: Short 2nd finger (HP:0009536)
Associated genes and diseases:
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: BMPR1B
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: BMP2
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: GDF5
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: GDF5
disease_id: OMIM:615298
disease_name: SYMPHALANGISM, PROXIMAL, 1B
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
gene_symbol: GPC4
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: GPC3
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: ERF
disease_id: OMIM:617180
disease_name: CHITAYAT SYNDROME
gene_symbol: MEIS2
disease_id: OMIM:600987
disease_name: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION
gene_symbol: IRX5
disease_id: OMIM:611174
disease_name: HAMAMY SYNDROME
gene_symbol: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: MYCN
disease_id: ORPHA:391641
disease_name: Feingold syndrome type 1
Brunner-Winter syndrome type 1
Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1
FGLDS1
FS1
MMT type 1
MODED syndrome type 1
Microcephaly-digital anomalies-normal intelligence syndrome type 1
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1
Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1
ODED syndrome type 1
Oculo-digito-esophageal-duodenal syndrome type 1
gene_symbol: SRCAP
disease_id: OMIM:136140
disease_name: FLOATING-HARBOR SYNDROME
gene_symbol: RUNX2
disease_id: OMIM:119600
disease_name: CLEIDOCRANIAL DYSPLASIA
gene_symbol: RUNX2
disease_id: OMIM:156510
disease_name: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY
gene_symbol: HOXD13
disease_id: ORPHA:93409
disease_name: Brachydactyly-syndactyly, Zhao type
gene_symbol: INTU
disease_id: OMIM:617926
disease_name: OROFACIODIGITAL SYNDROME XVII
gene_symbol: KIF15
disease_id: ORPHA:261323
disease_name: 21q22.11q22.12 microdeletion syndrome
Del(21)(q22.11q22.12)
Monosomy 21q22.11q22.12
Phenotype: Shortening of all distal phalanges of the toes (HP:0005793)
Associated genes and diseases:
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: TRPV4
disease_id: ORPHA:85169
disease_name: Familial digital arthropathy-brachydactyly
Phenotype: Short mandibular condyles (HP:0005790)
Associated genes and diseases:
gene_symbol: PLCB4
disease_id: OMIM:614669
disease_name: AURICULOCONDYLAR SYNDROME 2
gene_symbol: PLCB4
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: EDN1
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: GNAI3
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: GNAI3
disease_id: OMIM:602483
disease_name: AURICULOCONDYLAR SYNDROME 1
Phenotype: Generalized osteosclerosis (HP:0005789)
Associated genes and diseases:
gene_symbol: SOST
disease_id: ORPHA:3416
disease_name: Hyperostosis corticalis generalisata
Hyperphosphatasemia tarda
Van Buchem disease
gene_symbol: LRP5
disease_id: ORPHA:3416
disease_name: Hyperostosis corticalis generalisata
Hyperphosphatasemia tarda
Van Buchem disease
gene_symbol: LRP5
disease_id: OMIM:607634
disease_name: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
gene_symbol: LRP5
disease_id: ORPHA:2790
disease_name: Endosteal hyperostosis, Worth type
Autosomal dominant osteosclerosis, Worth type
Worth syndrome
gene_symbol: DHCR24
disease_id: OMIM:602398
disease_name: DESMOSTEROLOSIS
gene_symbol: CTSK
disease_id: ORPHA:763
disease_name: Pycnodysostosis
Pyknodysostosis
gene_symbol: CLCN7
disease_id: ORPHA:53
disease_name: Albers-Schönberg osteopetrosis
Osteopetrosis autosomal dominant type 2
gene_symbol: CLCN7
disease_id: ORPHA:210110
disease_name: Intermediate osteopetrosis
Autosomal recessive intermediate osteopetrosis
gene_symbol: CLCN7
disease_id: OMIM:166600
disease_name: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2
gene_symbol: TCIRG1
disease_id: ORPHA:210110
disease_name: Intermediate osteopetrosis
Autosomal recessive intermediate osteopetrosis
gene_symbol: PLEKHM1
disease_id: ORPHA:210110
disease_name: Intermediate osteopetrosis
Autosomal recessive intermediate osteopetrosis
gene_symbol: PHEX
disease_id: ORPHA:89936
disease_name: X-linked hypophosphatemia
X-linked hypophosphatemic rickets
XLH
gene_symbol: PTH1R
disease_id: OMIM:215045
disease_name: CHONDRODYSPLASIA, BLOMSTRAND TYPE
Phenotype: Increased bone density with cystic changes (HP:0005700)
Associated genes and diseases:
gene_symbol: GNAS
disease_id: ORPHA:94089
disease_name: Pseudohypoparathyroidism type 1B
gene_symbol: STX16
disease_id: ORPHA:94089
disease_name: Pseudohypoparathyroidism type 1B
Phenotype: Abnormal peripheral nerve morphology by anatomical site (HP:0045010)
Associated genes and diseases:
gene_symbol: DKK1
disease_id: ORPHA:268882
disease_name: Arnold-Chiari malformation type I
Arnold-Chiari malformation type 1
Chiari malformation type 1
Chiari malformation type I
gene_symbol: SH3TC2
disease_id: OMIM:601596
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
gene_symbol: FLVCR1
disease_id: ORPHA:88628
disease_name: Posterior column ataxia-retinitis pigmentosa syndrome
Autosomal recessive posterior column ataxia and retinitis pigmentosa
PCARP
gene_symbol: DHH
disease_id: ORPHA:168563
disease_name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
Phenotype: Decreased urinary catecholamine concentration (HP:0045012)
Associated genes and diseases:
gene_symbol: SLC18A2
disease_id: OMIM:618049
disease_name: PARKINSONISM-DYSTONIA, INFANTILE, 2
Phenotype: Hypolipidemia (HP:0045014)
Associated genes and diseases:
gene_symbol: CCT5
disease_id: OMIM:256840
disease_name: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE
gene_symbol: ANGPTL3
disease_id: OMIM:605019
disease_name: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2
gene_symbol: SAR1B
disease_id: OMIM:246700
disease_name: CHYLOMICRON RETENTION DISEASE
gene_symbol: MTTP
disease_id: ORPHA:14
disease_name: Abetalipoproteinemia
Bassen-Kornzweig disease
Homozygous familial hypobetalipoproteinemia
gene_symbol: APOC3
disease_id: OMIM:614028
disease_name: APOLIPOPROTEIN C-III DEFICIENCY
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: GALNT2
disease_id: OMIM:618885
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt
gene_symbol: PCYT1A
disease_id: ORPHA:85167
disease_name: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
SMD-CRD
gene_symbol: ACOX2
disease_id: OMIM:617308
disease_name: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6
Phenotype: Microlissencephaly (HP:0045028)
Associated genes and diseases:
gene_symbol: CIT
disease_id: OMIM:617090
disease_name: MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: KIF14
disease_id: OMIM:617914
disease_name: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: KATNB1
disease_id: OMIM:616212
disease_name: LISSENCEPHALY 6 WITH MICROCEPHALY
gene_symbol: KATNB1
disease_id: ORPHA:89844
disease_name: Lissencephaly syndrome, Norman-Roberts type
Microlissencephaly type A
gene_symbol: RELN
disease_id: ORPHA:89844
disease_name: Lissencephaly syndrome, Norman-Roberts type
Microlissencephaly type A
gene_symbol: NDE1
disease_id: ORPHA:89844
disease_name: Lissencephaly syndrome, Norman-Roberts type
Microlissencephaly type A
Phenotype: Elevated urinary 3-aminoisobutyric acid (HP:0045034)
Associated genes and diseases:
gene_symbol: ALDH6A1
disease_id: OMIM:614105
disease_name: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
Phenotype: Abnormal urinary copper concentration (HP:0045036)
Associated genes and diseases:
gene_symbol: ATP7B
disease_id: OMIM:277900
disease_name: WILSON DISEASE
Phenotype: Gastric lymphoma (HP:0045038)
Associated genes and diseases:
gene_symbol: BCL10
disease_id: OMIM:137245
disease_name: LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE
Phenotype: Reduced circulating lactate dehydrogenase concentration (HP:0045041)
Associated genes and diseases:
gene_symbol: LDHB
disease_id: OMIM:614128
disease_name: LACTATE DEHYDROGENASE B DEFICIENCY
Phenotype: Decreased circulating complement C4b concentration (HP:0045044)
Associated genes and diseases:
gene_symbol: C4B
disease_id: OMIM:614379
disease_name: COMPLEMENT COMPONENT 4B DEFICIENCY
Phenotype: Reduced insulin like growth factor binding protein acid labile subunit concentration (HP:0045046)
Associated genes and diseases:
gene_symbol: IGFALS
disease_id: OMIM:615961
disease_name: ACID-LABILE SUBUNIT DEFICIENCY