TaoMedAI/RareMedData huggingface dataset:
Phenotype: Increased fecal porphyrin (HP:0032999)
Associated genes and diseases:
gene_symbol: UROD
disease_id: ORPHA:95159
disease_name: Hepatoerythropoietic porphyria
HEP
gene_symbol: UROS
disease_id: OMIM:263700
disease_name: PORPHYRIA, CONGENITAL ERYTHROPOIETIC
gene_symbol: UROS
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: GATA1
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: ALAD
disease_id: ORPHA:100924
disease_name: Porphyria due to ALA dehydratase deficiency
ALAD porphyria
Porphyria due to ALAD deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss
gene_symbol: CPOX
disease_id: OMIM:121300
disease_name: COPROPORPHYRIA, HEREDITARY
Phenotype: Reduced production of gestures (HP:4000081)
Associated genes and diseases:
gene_symbol: CHD8
disease_id: OMIM:615032
disease_name: AUTISM, SUSCEPTIBILITY TO, 18
Phenotype: Abnormal gesture use (HP:4000090)
Associated genes and diseases:
gene_symbol: CHD8
disease_id: OMIM:615032
disease_name: AUTISM, SUSCEPTIBILITY TO, 18
Phenotype: Ectopic tooth eruption (HP:4000093)
Associated genes and diseases:
gene_symbol: ELMO2
disease_id: OMIM:606893
disease_name: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS
Phenotype: Corpus cavernosum hypoplasia (HP:4000094)
Associated genes and diseases:
gene_symbol: GATA4
disease_id: OMIM:615542
disease_name: TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE
Phenotype: Elevated circulating thymine concentration (HP:4000095)
Associated genes and diseases:
gene_symbol: DPYS
disease_id: OMIM:222748
disease_name: DIHYDROPYRIMIDINASE DEFICIENCY
Phenotype: Deviation of the 2nd finger (HP:0009468)
Associated genes and diseases:
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:113100
disease_name: BRACHYDACTYLY, TYPE C
gene_symbol: PTRH2
disease_id: OMIM:616263
disease_name: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET
gene_symbol: PTRH2
disease_id: ORPHA:456312
disease_name: Infantile multisystem neurologic-endocrine-pancreatic disease
IMNEPD
gene_symbol: HOXA13
disease_id: OMIM:140000
disease_name: HAND-FOOT-GENITAL SYNDROME
gene_symbol: ANKRD11
disease_id: OMIM:148050
disease_name: KBG SYNDROME
gene_symbol: TGDS
disease_id: OMIM:616145
disease_name: CATEL-MANZKE SYNDROME
gene_symbol: IHH
disease_id: OMIM:112500
disease_name: BRACHYDACTYLY, TYPE A1
gene_symbol: FLNA
disease_id: OMIM:304120
disease_name: OTOPALATODIGITAL SYNDROME, TYPE II
gene_symbol: CANT1
disease_id: OMIM:251450
disease_name: DESBUQUOIS DYSPLASIA 1
gene_symbol: MED25
disease_id: ORPHA:464738
disease_name: Basel-Vanagaite-Smirin-Yosef syndrome
gene_symbol: OPA3
disease_id: ORPHA:67036
disease_name: Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy type 3
OPA3, autosomal dominant
gene_symbol: HNRNPR
disease_id: OMIM:620073
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
gene_symbol: MED12
disease_id: ORPHA:93932
disease_name: FG syndrome type 1
Opitz-Kaveggia syndrome
gene_symbol: ERI1
disease_id: OMIM:620663
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: PIK3CD
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: CHSY1
disease_id: ORPHA:363417
disease_name: Temtamy preaxial brachydactyly syndrome
gene_symbol: CSGALNACT1
disease_id: OMIM:618870
disease_name: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
gene_symbol: FOXP2
disease_id: ORPHA:251061
disease_name: 7q31 microdeletion syndrome
Del(7)(q31)
Monosomy 7q31
Phenotype: Radial deviation of the 2nd finger (HP:0009467)
Associated genes and diseases:
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: TGDS
disease_id: ORPHA:1388
disease_name: Catel-Manzke syndrome
Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
Index finger anomaly-Pierre Robin syndrome
Micrognathia digital syndrome
Palatodigital syndrome, Catel-Manzke type
Pierre Robin sequence-hyperphalangy-clinodactyly syndrome
Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome
gene_symbol: IHH
disease_id: OMIM:112500
disease_name: BRACHYDACTYLY, TYPE A1
gene_symbol: FLNA
disease_id: OMIM:304120
disease_name: OTOPALATODIGITAL SYNDROME, TYPE II
gene_symbol: CANT1
disease_id: OMIM:251450
disease_name: DESBUQUOIS DYSPLASIA 1
Phenotype: Abnormality of the phalanges of the 2nd finger (HP:0009541)
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: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: BMPR1B
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: BMPR1B
disease_id: OMIM:616849
disease_name: BRACHYDACTYLY, TYPE A1, D
gene_symbol: BMPR1B
disease_id: ORPHA:93396
disease_name: Brachydactyly type A2
Brachydactyly, Mohr-Wriedt type
gene_symbol: BMP2
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: BMP2
disease_id: ORPHA:93396
disease_name: Brachydactyly type A2
Brachydactyly, Mohr-Wriedt type
gene_symbol: GDF5
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: GDF5
disease_id: ORPHA:93396
disease_name: Brachydactyly type A2
Brachydactyly, Mohr-Wriedt type
gene_symbol: BHLHA9
disease_id: OMIM:609432
disease_name: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
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: ERF
disease_id: OMIM:617180
disease_name: CHITAYAT 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
gene_symbol: FGFR2
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: TWIST1
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
Phenotype: Aplasia of the 2nd finger (HP:0009535)
Associated genes and diseases:
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
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
gene_symbol: BMPR1B
disease_id: OMIM:609441
disease_name: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
Phenotype: Pseudoepiphysis of the 2nd finger (HP:0009495)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: ORPHA:93384
disease_name: Brachydactyly type C
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
gene_symbol: BMPR1B
disease_id: ORPHA:93384
disease_name: Brachydactyly type C
Phenotype: Abnormality of the distal phalanx of the 2nd finger (HP:0009542)
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: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: BMPR1B
disease_id: OMIM:616849
disease_name: BRACHYDACTYLY, TYPE A1, D
gene_symbol: FGFR2
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: TWIST1
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
Phenotype: Midline nasal groove (HP:0004112)
Associated genes and diseases:
gene_symbol: ALX3
disease_id: ORPHA:391474
disease_name: Frontorhiny
ALX3-related frontonasal dysplasia
Frontonasal dysplasia type 1
Isolated median cleft face syndrome
gene_symbol: FREM2
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: FRAS1
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
gene_symbol: GRIP1
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
Phenotype: Triangular shaped phalanges of the 2nd finger (HP:0009546)
Associated genes and diseases:
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:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Abnormality of the proximal phalanx of the 2nd finger (HP:0009544)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
gene_symbol: BMPR1B
disease_id: OMIM:609441
disease_name: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
gene_symbol: KIF15
disease_id: ORPHA:261323
disease_name: 21q22.11q22.12 microdeletion syndrome
Del(21)(q22.11q22.12)
Monosomy 21q22.11q22.12
Phenotype: Midline defect of the nose (HP:0004122)
Associated genes and diseases:
gene_symbol: ALX3
disease_id: ORPHA:391474
disease_name: Frontorhiny
ALX3-related frontonasal dysplasia
Frontonasal dysplasia type 1
Isolated median cleft face syndrome
gene_symbol: FREM2
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: FRAS1
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
gene_symbol: GRIP1
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: PTCH1
disease_id: OMIM:610828
disease_name: HOLOPROSENCEPHALY 7
gene_symbol: EFNB1
disease_id: ORPHA:1520
disease_name: Craniofrontonasal dysplasia
CFND
CFNS
Craniofrontonasal syndrome
gene_symbol: HYLS1
disease_id: OMIM:236680
disease_name: HYDROLETHALUS SYNDROME 1
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
gene_symbol: LONP1
disease_id: ORPHA:1458
disease_name: CODAS syndrome
Cerebrooculodentoauriculoskeletal syndrome
gene_symbol: TFE3
disease_id: OMIM:301066
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
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: ALX4
disease_id: ORPHA:228390
disease_name: Frontonasal dysplasia-alopecia-genital anomalies syndrome
ALX4-related FNDAG
Craniofrontonasal dysplasia with alopecia and hypogonadism
Frontonasal dysplasia type 2
Frontonasal dysplasia with alopecia and genital abnomality
gene_symbol: ALX1
disease_id: ORPHA:306542
disease_name: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
ALX1-related frontonasal dysplasia
Frontonasal dysplasia type 3
gene_symbol: NUAK2
disease_id: OMIM:619452
disease_name: ANENCEPHALY 2
gene_symbol: NF1
disease_id: ORPHA:139474
disease_name: 17q11.2 microduplication syndrome
Dup(17)(q11.2)
Grisart-Destrée syndrome
Trisomy 17q11.2
gene_symbol: FREM1
disease_id: ORPHA:217266
disease_name: BNAR syndrome
Bifid nose with or without anorectal and renal anomalies
gene_symbol: FREM1
disease_id: OMIM:608980
disease_name: BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES
gene_symbol: NSMF
disease_id: OMIM:614838
disease_name: HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA
Phenotype: Short proximal phalanx of the 2nd finger (HP:0009597)
Associated genes and diseases:
gene_symbol: KIF15
disease_id: ORPHA:261323
disease_name: 21q22.11q22.12 microdeletion syndrome
Del(21)(q22.11q22.12)
Monosomy 21q22.11q22.12
Phenotype: Triangular shaped proximal phalanx of the 2nd finger (HP:0009587)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Abnormality of the epiphysis of the proximal phalanx of the 2nd finger (HP:0009501)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Enlarged epiphysis of the proximal phalanx of the 2nd finger (HP:0009527)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines (HP:0007402)
Associated genes and diseases:
gene_symbol: PCNT
disease_id: OMIM:210720
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
Phenotype: Hypertrophy of skin of soles (HP:0007403)
Associated genes and diseases:
gene_symbol: AKT1
disease_id: OMIM:176920
disease_name: PROTEUS SYNDROME
Phenotype: Nonepidermolytic palmoplantar hyperkeratosis (HP:0007404)
Associated genes and diseases:
gene_symbol: KRT1
disease_id: OMIM:600962
disease_name: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC
gene_symbol: KRT1
disease_id: ORPHA:530838
disease_name: KRT1-related diffuse nonepidermolytic keratoderma
KRT1-related diffuse NEPPK
gene_symbol: SLURP1
disease_id: ORPHA:87503
disease_name: Mal de Meleda
Keratosis palmoplantaris transgrediens of Siemens
Meleda disease
Transgrediens palmoplantar keratoderma of Siemens
Phenotype: Diffuse telangiectasia (HP:0007489)
Associated genes and diseases:
gene_symbol: PEPD
disease_id: OMIM:170100
disease_name: PROLIDASE DEFICIENCY
Phenotype: Excessive skin wrinkling on dorsum of hands and fingers (HP:0007407)
Associated genes and diseases:
gene_symbol: ATP6V0A2
disease_id: ORPHA:2834
disease_name: Wrinkly skin syndrome
WSS
Wrinkled skin syndrome
gene_symbol: CFTR
disease_id: ORPHA:498359
disease_name: Aquagenic palmoplantar keratoderma
Aquagenic keratoderma
Aquagenic syringeal acrokeratoderma
Aquagenic wrinkling of the palms
Transient reactive papulotranslucent acrokeratoderma
Phenotype: Tegumentary leishmaniasis susceptibility (HP:0007408)
Associated genes and diseases:
gene_symbol: IL12RB1
disease_id: ORPHA:319552
disease_name: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
MSMD due to complete IL12RB1 deficiency
MSMD due to complete interleukin 12 receptor beta 1 deficiency
Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
Phenotype: Abnormality of the middle phalanx of the 2nd finger (HP:0009543)
Associated genes and diseases:
gene_symbol: BMPR1B
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: BMPR1B
disease_id: OMIM:616849
disease_name: BRACHYDACTYLY, TYPE A1, D
gene_symbol: BMPR1B
disease_id: ORPHA:93396
disease_name: Brachydactyly type A2
Brachydactyly, Mohr-Wriedt type
gene_symbol: BMP2
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: BMP2
disease_id: ORPHA:93396
disease_name: Brachydactyly type A2
Brachydactyly, Mohr-Wriedt type
gene_symbol: GDF5
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: GDF5
disease_id: ORPHA:93396
disease_name: Brachydactyly type A2
Brachydactyly, Mohr-Wriedt type
gene_symbol: BHLHA9
disease_id: OMIM:609432
disease_name: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION
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
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: ERF
disease_id: OMIM:617180
disease_name: CHITAYAT 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
Phenotype: Short middle phalanx of the 2nd finger (HP:0009577)
Associated genes and diseases:
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: ERF
disease_id: OMIM:617180
disease_name: CHITAYAT 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: GDF5
disease_id: OMIM:615072
disease_name: BRACHYDACTYLY, TYPE A1, C
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
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
Phenotype: Abnormality of the epiphysis of the middle phalanx of the 2nd finger (HP:0009500)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Triangular epiphysis of the proximal phalanx of the 2nd finger (HP:0009534)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
Phenotype: Palmoplantar hyperhidrosis (HP:0007410)
Associated genes and diseases:
gene_symbol: CFTR
disease_id: ORPHA:498359
disease_name: Aquagenic palmoplantar keratoderma
Aquagenic keratoderma
Aquagenic syringeal acrokeratoderma
Aquagenic wrinkling of the palms
Transient reactive papulotranslucent acrokeratoderma
gene_symbol: CTSB
disease_id: OMIM:148370
disease_name: KERATOLYTIC WINTER ERYTHEMA
gene_symbol: WNT10A
disease_id: OMIM:150400
disease_name: TOOTH AGENESIS, SELECTIVE, 4
gene_symbol: WNT10A
disease_id: OMIM:257980
disease_name: ODONTOONYCHODERMAL DYSPLASIA
gene_symbol: SERPINB7
disease_id: OMIM:615598
disease_name: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE
gene_symbol: PLAA
disease_id: OMIM:617527
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
gene_symbol: KRT6B
disease_id: OMIM:167210
disease_name: PACHYONYCHIA CONGENITA 2
gene_symbol: KRT6B
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: KRT17
disease_id: OMIM:167210
disease_name: PACHYONYCHIA CONGENITA 2
gene_symbol: KRT17
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: MBTPS2
disease_id: ORPHA:659
disease_name: Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
Olmsted syndrome
Palmoplantar and periorificial keratoderma
gene_symbol: TRPV3
disease_id: ORPHA:659
disease_name: Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
Olmsted syndrome
Palmoplantar and periorificial keratoderma
gene_symbol: PERP
disease_id: ORPHA:659
disease_name: Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques
Olmsted syndrome
Palmoplantar and periorificial keratoderma
gene_symbol: RSPO1
disease_id: OMIM:610644
disease_name: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL
gene_symbol: KRT16
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: KRT6A
disease_id: ORPHA:2309
disease_name: Pachyonychia congenita
PC
gene_symbol: CDSN
disease_id: OMIM:270300
disease_name: PEELING SKIN SYNDROME 1
Phenotype: Hypoplastic-absent sebaceous glands (HP:0007411)
Associated genes and diseases:
gene_symbol: EDA
disease_id: OMIM:305100
disease_name: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
Phenotype: Macular hyperpigmented dermopathy (HP:0007412)
Associated genes and diseases:
gene_symbol: COL17A1
disease_id: OMIM:619787
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE
Phenotype: Nevus flammeus of the forehead (HP:0007413)
Associated genes and diseases:
gene_symbol: ASXL2
disease_id: OMIM:617190
disease_name: SHASHI-PENA SYNDROME
gene_symbol: MED25
disease_id: ORPHA:464738
disease_name: Basel-Vanagaite-Smirin-Yosef syndrome
gene_symbol: MED25
disease_id: OMIM:616449
disease_name: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
gene_symbol: LBR
disease_id: OMIM:618019
disease_name: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
gene_symbol: FRA10AC1
disease_id: OMIM:620113
disease_name: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES
gene_symbol: RBM8A
disease_id: ORPHA:3320
disease_name: Thrombocytopenia-absent radius syndrome
TAR syndrome
gene_symbol: RBM8A
disease_id: OMIM:274000
disease_name: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
gene_symbol: PLP1
disease_id: ORPHA:280229
disease_name: Pelizaeus-Merzbacher disease in female carriers
gene_symbol: CDK13
disease_id: OMIM:617360
disease_name: CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
gene_symbol: CDK10
disease_id: OMIM:617694
disease_name: AL KAISSI SYNDROME