TaoMedAI/RareMedData huggingface dataset:
Phenotype: Decreased circulating C1-esterase inhibitor concentration (HP:0034204)
Associated genes and diseases:
gene_symbol: SERPING1
disease_id: OMIM:106100
disease_name: ANGIOEDEMA, HEREDITARY, TYPE I
Phenotype: Abnormal fetal central nervous system morphology (HP:0034206)
Associated genes and diseases:
gene_symbol: ASXL2
disease_id: OMIM:617190
disease_name: SHASHI-PENA SYNDROME
gene_symbol: MRPS16
disease_id: OMIM:610498
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2
gene_symbol: MYT1L
disease_id: ORPHA:647799
disease_name: MYT1L-related developmental delay-intellectual disability-obesity syndrome
MYT1L-associated neurodevelopmental disorder
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: DPYSL5
disease_id: OMIM:619435
disease_name: RITSCHER-SCHINZEL SYNDROME 4
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: DHPS
disease_id: OMIM:618480
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT
Phenotype: Abnormal fetal gastrointestinal system morphology (HP:0034207)
Associated genes and diseases:
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: NPC2
disease_id: OMIM:607625
disease_name: NIEMANN-PICK DISEASE, TYPE C2
gene_symbol: HSD17B4
disease_id: OMIM:261515
disease_name: D-BIFUNCTIONAL PROTEIN DEFICIENCY
gene_symbol: MDFIC
disease_id: OMIM:620014
disease_name: LYMPHATIC MALFORMATION 12
gene_symbol: NPC1
disease_id: OMIM:257220
disease_name: NIEMANN-PICK DISEASE, TYPE C1
gene_symbol: PTH1R
disease_id: OMIM:215045
disease_name: CHONDRODYSPLASIA, BLOMSTRAND TYPE
gene_symbol: RHD
disease_id: OMIM:619462
disease_name: HEMOLYTIC DISEASE OF FETUS AND NEWBORN, RH-INDUCED
gene_symbol: EIF5A
disease_id: OMIM:619376
disease_name: FAUNDES-BANKA SYNDROME
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: ZNF699
disease_id: OMIM:619488
disease_name: DEGCAGS SYNDROME
gene_symbol: KMT2D
disease_id: OMIM:620186
disease_name: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME
gene_symbol: PIGY
disease_id: OMIM:616809
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6
gene_symbol: ZBTB42
disease_id: OMIM:616248
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 6
gene_symbol: NUP88
disease_id: OMIM:618393
disease_name: FETAL AKINESIA DEFORMATION SEQUENCE 4
gene_symbol: TRIP11
disease_id: OMIM:200600
disease_name: ACHONDROGENESIS, TYPE IA
gene_symbol: ADGRG6
disease_id: OMIM:616503
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 9
gene_symbol: ZIC3
disease_id: OMIM:314390
disease_name: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
gene_symbol: FANCB
disease_id: OMIM:314390
disease_name: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
gene_symbol: KIF26A
disease_id: OMIM:620156
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11
Phenotype: Fetal intracranial hemorrhage (HP:0034208)
Associated genes and diseases:
gene_symbol: DHPS
disease_id: OMIM:618480
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT
Phenotype: Fetal intraventricular hemorrhage (HP:0034210)
Associated genes and diseases:
gene_symbol: DHPS
disease_id: OMIM:618480
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT
Phenotype: Sonographic non-visualized fetal bladder (HP:0034217)
Associated genes and diseases:
gene_symbol: GRIP1
disease_id: OMIM:617667
disease_name: FRASER SYNDROME 3
gene_symbol: B9D1
disease_id: OMIM:614209
disease_name: MECKEL SYNDROME, TYPE 9
Phenotype: Abnormal temporal lobe morphology (HP:0034221)
Associated genes and diseases:
gene_symbol: FGFR3
disease_id: OMIM:187601
disease_name: THANATOPHORIC DYSPLASIA, TYPE II
gene_symbol: FGFR3
disease_id: OMIM:187600
disease_name: THANATOPHORIC DYSPLASIA, TYPE I
Phenotype: Temporal lobe dysplasia (HP:0034222)
Associated genes and diseases:
gene_symbol: FGFR3
disease_id: OMIM:187601
disease_name: THANATOPHORIC DYSPLASIA, TYPE II
gene_symbol: FGFR3
disease_id: OMIM:187600
disease_name: THANATOPHORIC DYSPLASIA, TYPE I
Phenotype: Champagne cork sign (HP:0034226)
Associated genes and diseases:
gene_symbol: FGFR3
disease_id: OMIM:187600
disease_name: THANATOPHORIC DYSPLASIA, TYPE I
Phenotype: Aortic isthmus hypoplasia (HP:0034227)
Associated genes and diseases:
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
Phenotype: Sigmoid kidney (HP:0034231)
Associated genes and diseases:
gene_symbol: MNX1
disease_id: ORPHA:1552
disease_name: Currarino syndrome
Currarino triad
Phenotype: Abnormal fetal genitourinary system morphology (HP:0034242)
Associated genes and diseases:
gene_symbol: FGF13
disease_id: OMIM:301058
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90
gene_symbol: KANSL1
disease_id: ORPHA:363965
disease_name: Koolen-De Vries syndrome due to a point mutation
gene_symbol: KANSL1
disease_id: ORPHA:363958
disease_name: 17q21.31 microdeletion syndrome
Del(17)(q21.31)
Monosomy 17q21.31
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: CLCN3
disease_id: OMIM:619512
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
gene_symbol: PI4KA
disease_id: OMIM:616531
disease_name: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
gene_symbol: MYL9
disease_id: OMIM:619365
disease_name: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4
gene_symbol: TBCK
disease_id: OMIM:616900
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
gene_symbol: ZBTB18
disease_id: OMIM:612337
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
gene_symbol: BNC2
disease_id: ORPHA:93110
disease_name: Posterior urethral valve
PUV
gene_symbol: FH
disease_id: OMIM:606812
disease_name: FUMARASE DEFICIENCY
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: GRIP1
disease_id: OMIM:617667
disease_name: FRASER SYNDROME 3
gene_symbol: B9D1
disease_id: OMIM:614209
disease_name: MECKEL SYNDROME, TYPE 9
Phenotype: Abnormal fetal pulmonary morphology (HP:0034243)
Associated genes and diseases:
gene_symbol: PI4KA
disease_id: ORPHA:436252
disease_name: Combined immunodeficiency-enteropathy spectrum
CID-MIA/early-onset IBD
gene_symbol: TTC7A
disease_id: ORPHA:436252
disease_name: Combined immunodeficiency-enteropathy spectrum
CID-MIA/early-onset IBD
gene_symbol: TTC7A
disease_id: OMIM:243150
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME
gene_symbol: CFAP221
disease_id: OMIM:279000
disease_name: YOUNG SYNDROME
gene_symbol: WNT4
disease_id: OMIM:611812
disease_name: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS
gene_symbol: NUP88
disease_id: OMIM:618393
disease_name: FETAL AKINESIA DEFORMATION SEQUENCE 4
gene_symbol: MDFIC
disease_id: OMIM:620014
disease_name: LYMPHATIC MALFORMATION 12
gene_symbol: LZTR1
disease_id: OMIM:605275
disease_name: NOONAN SYNDROME 2
gene_symbol: THSD1
disease_id: OMIM:620244
disease_name: LYMPHATIC MALFORMATION 13
gene_symbol: CRLS1
disease_id: OMIM:620167
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57
gene_symbol: RHD
disease_id: OMIM:619462
disease_name: HEMOLYTIC DISEASE OF FETUS AND NEWBORN, RH-INDUCED
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
Phenotype: Severe influenza infection (HP:0034249)
Associated genes and diseases:
gene_symbol: IRF7
disease_id: OMIM:616345
disease_name: IMMUNODEFICIENCY 39
gene_symbol: SASH3
disease_id: OMIM:301082
disease_name: IMMUNODEFICIENCY 102
Phenotype: Fetal nuchal edema (HP:0034250)
Associated genes and diseases:
gene_symbol: TCF4
disease_id: OMIM:610954
disease_name: PITT-HOPKINS SYNDROME
Phenotype: Abnormal corneal reflex (HP:0034251)
Associated genes and diseases:
gene_symbol: LIFR
disease_id: ORPHA:3206
disease_name: Stüve-Wiedemann syndrome
Neonatal Schwartz-Jampel syndrome
SJS2
STWS
SWS
Schwartz-Jampel syndrome type 2
Stüve-Wiedemann dysplasia
Stüve-Wiedemann syndrome type 1
gene_symbol: ZFHX2
disease_id: OMIM:147430
disease_name: MARSILI SYNDROME
gene_symbol: ELP1
disease_id: OMIM:223900
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III
gene_symbol: NTRK1
disease_id: ORPHA:642
disease_name: Hereditary sensory and autonomic neuropathy type 4
CIPA
Congenital insensitivity to pain with anhidrosis
HSAN4
Hereditary sensory and autonomic neuropathy type IV
gene_symbol: WNK1
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: RETREG1
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: SCN9A
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: KIF1A
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: ALG11
disease_id: ORPHA:280071
disease_name: ALG11-CDG
CDG syndrome type Ip
CDG-Ip
CDG1P
Carbohydrate deficient glycoprotein syndrome type Ip
Congenital disorder of glycosylation type 1p
Congenital disorder of glycosylation type Ip
gene_symbol: CLTCL1
disease_id: ORPHA:453510
disease_name: Congenital insensitivity to pain with severe intellectual disability
Congenital absence of pain with severe intellectual disability
Congenital analgesia with severe intellectual disability
Congenital insensitivity to pain with preserved temperature sensation
Congenital insensitivity to pain with severe non-progressive cognitive delay
gene_symbol: DST
disease_id: OMIM:614653
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
gene_symbol: NEUROG1
disease_id: OMIM:620469
disease_name: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY
Phenotype: Absent corneal reflex (HP:0034252)
Associated genes and diseases:
gene_symbol: DST
disease_id: OMIM:614653
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
gene_symbol: NEUROG1
disease_id: OMIM:620469
disease_name: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY
gene_symbol: LIFR
disease_id: OMIM:601559
disease_name: STUVE-WIEDEMANN SYNDROME
Phenotype: Broad fingertip (HP:0011300)
Associated genes and diseases:
gene_symbol: HPGD
disease_id: ORPHA:217059
disease_name: Isolated nail clubbing
Isolated congenital acropachy
Isolated congenital digital clubbing
gene_symbol: SRCAP
disease_id: ORPHA:2044
disease_name: Floating-Harbor syndrome
gene_symbol: SRCAP
disease_id: OMIM:136140
disease_name: FLOATING-HARBOR SYNDROME
gene_symbol: RAB3GAP2
disease_id: OMIM:212720
disease_name: MARTSOLF SYNDROME
gene_symbol: TCF4
disease_id: OMIM:610954
disease_name: PITT-HOPKINS SYNDROME
gene_symbol: TCF4
disease_id: ORPHA:2896
disease_name: Pitt-Hopkins syndrome
Phenotype: Long palm (HP:0011302)
Associated genes and diseases:
gene_symbol: SMS
disease_id: OMIM:309583
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
gene_symbol: SLC2A10
disease_id: ORPHA:3342
disease_name: Arterial tortuosity syndrome
ATS
gene_symbol: UPF3B
disease_id: OMIM:300676
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14
gene_symbol: UBE3B
disease_id: OMIM:244450
disease_name: KAUFMAN OCULOCEREBROFACIAL SYNDROME
gene_symbol: POR
disease_id: ORPHA:95699
disease_name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD
Phenotype: Partial absence of toe (HP:0011305)
Associated genes and diseases:
gene_symbol: NOTCH2
disease_id: ORPHA:955
disease_name: Hajdu-Cheney syndrome
Acroosteolysis dominant type
Acroosteolysis with osteoporosis and changes in skull and mandible
Arthrodentoosteodysplasia
Cheney syndrome
Phenotype: Aplasia/Hypoplasia of the midbrain (HP:0034258)
Associated genes and diseases:
gene_symbol: BRF1
disease_id: OMIM:616202
disease_name: CEREBELLOFACIODENTAL SYNDROME
Phenotype: Hypoplasia of the midbrain (HP:0034259)
Associated genes and diseases:
gene_symbol: BRF1
disease_id: OMIM:616202
disease_name: CEREBELLOFACIODENTAL SYNDROME
Phenotype: Face of the giant panda sign (HP:0034254)
Associated genes and diseases:
gene_symbol: ATP7B
disease_id: OMIM:277900
disease_name: WILSON DISEASE
Phenotype: Eosinophil nuclear hypersegmentation (HP:0034253)
Associated genes and diseases:
gene_symbol: EPX
disease_id: OMIM:261500
disease_name: EOSINOPHIL PEROXIDASE DEFICIENCY
Phenotype: Aplastic zygomatic arch (HP:0034260)
Associated genes and diseases:
gene_symbol: TWIST2
disease_id: OMIM:200110
disease_name: ABLEPHARON-MACROSTOMIA SYNDROME
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
Phenotype: Absent lanugo (HP:0034262)
Associated genes and diseases:
gene_symbol: TWIST2
disease_id: OMIM:200110
disease_name: ABLEPHARON-MACROSTOMIA SYNDROME
Phenotype: Sydney crease (HP:0011311)
Associated genes and diseases:
gene_symbol: YY1
disease_id: ORPHA:506358
disease_name: Gabriele-de Vries syndrome
YY1 haploinsufficiency syndrome
Phenotype: Unicoronal synostosis (HP:0011315)
Associated genes and diseases:
gene_symbol: MSX2
disease_id: OMIM:604757
disease_name: CRANIOSYNOSTOSIS 2
gene_symbol: CEP120
disease_id: OMIM:616300
disease_name: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
gene_symbol: SMO
disease_id: OMIM:601707
disease_name: CURRY-JONES SYNDROME
gene_symbol: TCF12
disease_id: OMIM:615314
disease_name: CRANIOSYNOSTOSIS 3
gene_symbol: PIGO
disease_id: OMIM:614749
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
gene_symbol: ZEB2
disease_id: ORPHA:261537
disease_name: Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: TWIST1
disease_id: OMIM:123100
disease_name: CRANIOSYNOSTOSIS 1
Phenotype: Left unicoronal synostosis (HP:0011316)
Associated genes and diseases:
gene_symbol: TCF12
disease_id: OMIM:615314
disease_name: CRANIOSYNOSTOSIS 3
gene_symbol: PIGO
disease_id: OMIM:614749
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
Phenotype: Right unicoronal synostosis (HP:0011317)
Associated genes and diseases:
gene_symbol: TCF12
disease_id: OMIM:615314
disease_name: CRANIOSYNOSTOSIS 3
gene_symbol: ZEB2
disease_id: ORPHA:261537
disease_name: Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: TWIST1
disease_id: OMIM:123100
disease_name: CRANIOSYNOSTOSIS 1
Phenotype: Bicoronal synostosis (HP:0011318)
Associated genes and diseases:
gene_symbol: ZIC1
disease_id: OMIM:618736
disease_name: STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS
gene_symbol: ZIC1
disease_id: OMIM:616602
disease_name: CRANIOSYNOSTOSIS 6
gene_symbol: TCF12
disease_id: OMIM:615314
disease_name: CRANIOSYNOSTOSIS 3
gene_symbol: TCF12
disease_id: OMIM:619718
disease_name: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA
gene_symbol: MSX2
disease_id: OMIM:604757
disease_name: CRANIOSYNOSTOSIS 2
gene_symbol: SCUBE3
disease_id: OMIM:619184
disease_name: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2
gene_symbol: RECQL4
disease_id: OMIM:218600
disease_name: BALLER-GEROLD SYNDROME
gene_symbol: ERF
disease_id: OMIM:600775
disease_name: CRANIOSYNOSTOSIS 4
gene_symbol: H4C9
disease_id: OMIM:619951
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4
gene_symbol: FGFR1
disease_id: ORPHA:93258
disease_name: Pfeiffer syndrome type 1
Classic Pfeiffer syndrome
gene_symbol: FGFR2
disease_id: ORPHA:93258
disease_name: Pfeiffer syndrome type 1
Classic Pfeiffer syndrome
gene_symbol: SMO
disease_id: OMIM:601707
disease_name: CURRY-JONES SYNDROME
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
Phenotype: Abnormal vaginal bleeding (HP:0034263)
Associated genes and diseases:
gene_symbol: FCGR2C
disease_id: ORPHA:3002
disease_name: Immune thrombocytopenia
ITP
Immune thrombocytopenic purpura
Phenotype: Abnormal vaginal physiology (HP:0034268)
Associated genes and diseases:
gene_symbol: FCGR2C
disease_id: ORPHA:3002
disease_name: Immune thrombocytopenia
ITP
Immune thrombocytopenic purpura
Phenotype: Serrated incisors (HP:0034270)
Associated genes and diseases:
gene_symbol: CKAP2L
disease_id: OMIM:272440
disease_name: FILIPPI SYNDROME
Phenotype: Copper beaten skull (HP:0034271)
Associated genes and diseases:
gene_symbol: CDC45
disease_id: OMIM:617063
disease_name: MEIER-GORLIN SYNDROME 7
gene_symbol: LTBP1
disease_id: OMIM:619451
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE
Phenotype: Perifoveal hypoautofluorescence (HP:0034272)
Associated genes and diseases:
gene_symbol: RPGR
disease_id: OMIM:300029
disease_name: RETINITIS PIGMENTOSA 3
gene_symbol: KIZ
disease_id: OMIM:615780
disease_name: RETINITIS PIGMENTOSA 69
Phenotype: Unilambdoid synostosis (HP:0011320)
Associated genes and diseases:
gene_symbol: RAC3
disease_id: OMIM:618577
disease_name: NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES
gene_symbol: KRAS
disease_id: OMIM:609942
disease_name: NOONAN SYNDROME 3
gene_symbol: ZIC1
disease_id: OMIM:616602
disease_name: CRANIOSYNOSTOSIS 6
Phenotype: Left unilambdoid synostosis (HP:0011321)
Associated genes and diseases:
gene_symbol: KRAS
disease_id: OMIM:609942
disease_name: NOONAN SYNDROME 3
Phenotype: Right unilambdoid synostosis (HP:0011322)
Associated genes and diseases:
gene_symbol: ZIC1
disease_id: OMIM:616602
disease_name: CRANIOSYNOSTOSIS 6
Phenotype: Cleft of chin (HP:0011323)
Associated genes and diseases:
gene_symbol: TFAP2A
disease_id: OMIM:113620
disease_name: BRANCHIOOCULOFACIAL SYNDROME
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: Pansynostosis (HP:0011325)
Associated genes and diseases:
gene_symbol: ERF
disease_id: OMIM:600775
disease_name: CRANIOSYNOSTOSIS 4
gene_symbol: TWIST1
disease_id: OMIM:180750
disease_name: ROBINOW-SORAUF SYNDROME
Phenotype: Anterior plagiocephaly (HP:0011326)
Associated genes and diseases:
gene_symbol: TCF12
disease_id: OMIM:619718
disease_name: HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA
gene_symbol: PIGO
disease_id: OMIM:614749
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
gene_symbol: ATP6V1B2
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: TBC1D24
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: ALX4
disease_id: OMIM:613451
disease_name: FRONTONASAL DYSPLASIA 2
Phenotype: Posterior plagiocephaly (HP:0011327)
Associated genes and diseases:
gene_symbol: CAMK2A
disease_id: OMIM:617798
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
gene_symbol: ADNP
disease_id: OMIM:615873
disease_name: HELSMOORTEL-VAN DER AA SYNDROME
gene_symbol: GRIA1
disease_id: OMIM:619927
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67
gene_symbol: CACNA2D1
disease_id: OMIM:620149
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: RFX7
disease_id: OMIM:620330
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES
gene_symbol: ALG12
disease_id: ORPHA:79324
disease_name: ALG12-CDG
CDG syndrome type Ig
CDG-Ig
CDG1G
Carbohydrate deficient glycoprotein syndrome type Ig
Congenital disorder of glycosylation type 1g
Congenital disorder of glycosylation type Ig
Mannosyltransferase 8 deficiency
Phenotype: Premature sagging cheeks (HP:0034273)
Associated genes and diseases:
gene_symbol: ATP6V1E1
disease_id: OMIM:617402
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
gene_symbol: PYCR1
disease_id: OMIM:612940
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
gene_symbol: LTBP1
disease_id: OMIM:619451
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE
gene_symbol: AEBP1
disease_id: OMIM:618000
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2
gene_symbol: FBLN5
disease_id: OMIM:219100
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA
Phenotype: Elevated circulating thymidine concentration (HP:0034276)
Associated genes and diseases:
gene_symbol: TYMP
disease_id: OMIM:603041
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
gene_symbol: POLG
disease_id: OMIM:603041
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
Phenotype: Verrucous epidermal nevus (HP:0034275)
Associated genes and diseases:
gene_symbol: HRAS
disease_id: ORPHA:79414
disease_name: Woolly hair nevus
Wooly hair nevus
gene_symbol: XPA
disease_id: OMIM:278700
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
Phenotype: Multinucleated erythroblast (HP:0034278)
Associated genes and diseases:
gene_symbol: CDIN1
disease_id: OMIM:615631
disease_name: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
Phenotype: Elevated circulating deoxyuridine concentration (HP:0034277)
Associated genes and diseases:
gene_symbol: TYMP
disease_id: OMIM:603041
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
gene_symbol: POLG
disease_id: OMIM:603041
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
Phenotype: 2,8-dihydroxyadenine crystalluria (HP:0034279)
Associated genes and diseases:
gene_symbol: APRT
disease_id: OMIM:614723
disease_name: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY
Phenotype: Target cells (HP:0034280)
Associated genes and diseases:
gene_symbol: ABCB7
disease_id: OMIM:301310
disease_name: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
gene_symbol: HBB
disease_id: OMIM:603903
disease_name: SICKLE CELL ANEMIA