TaoMedAI/RareMedData huggingface dataset:
Gene: FADD
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS (OMIM:613759)
Gene: FADD
Phenotype: Hepatic bridging fibrosis (HP:0012852)
Associated disease: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS (OMIM:613759)
Gene: FADD
Phenotype: Left superior vena cava draining directly to the left atrium (HP:0011669)
Associated disease: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS (OMIM:613759)
Gene: FADD
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: FADD-related immunodeficiency (ORPHA:306550)
Gene: FADD
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS (OMIM:613759)
Gene: FADD
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: FADD-related immunodeficiency (ORPHA:306550)
Gene: MPDZ
Phenotype: Alternating esotropia (HP:0001137)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Macular hypoplasia (HP:0001104)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Motor delay (HP:0001270)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Seizure (HP:0001250)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Lissencephaly (HP:0001339)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Optic atrophy (HP:0000648)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Iris coloboma (HP:0000612)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Third trimester onset (HP:0034197)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Macrocephaly (HP:0000256)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Microcephaly (HP:0000252)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Colpocephaly (HP:0030048)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Strabismus (HP:0000486)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Bulbous nose (HP:0000414)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Visual impairment (HP:0000505)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: MPDZ
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Gene: RGS9
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION (OMIM:608415)
Gene: RGS9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION (OMIM:608415)
Gene: RGS9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9
Phenotype: Difficulty adjusting to changes in luminance (HP:0030512)
Associated disease: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION (OMIM:608415)
Gene: RGS9
Phenotype: Bradyopsia (HP:0030511)
Associated disease: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION (OMIM:608415)
Gene: RGS9
Phenotype: Photophobia (HP:0000613)
Associated disease: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION (OMIM:608415)
Gene: RGS9
Phenotype: Photophobia (HP:0000613)
Associated disease: Prolonged electroretinal response suppression; Bradyopsia; PERRS (ORPHA:75374)
Gene: RGS9
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9
Phenotype: Childhood onset (HP:0011463)
Associated disease: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION (OMIM:608415)
Gene: RGS9
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9
Phenotype: Visual impairment (HP:0000505)
Associated disease: Prolonged electroretinal response suppression; Bradyopsia; PERRS (ORPHA:75374)
Gene: RGS9
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RGS9
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DLK1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Microtia (HP:0008551)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Motor delay (HP:0001270)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: DLK1
Phenotype: Motor delay (HP:0001270)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: DLK1
Phenotype: Motor delay (HP:0001270)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: DLK1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: DLK1
Phenotype: Seizure (HP:0001250)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: DLK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: DLK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: DLK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: DLK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: DLK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: DLK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: DLK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: DLK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: DLK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: DLK1
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: DLK1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Interphalangeal joint contracture of finger (HP:0001220)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: DLK1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: DLK1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: DLK1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: DLK1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: DLK1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: DLK1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: DLK1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: DLK1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: DLK1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: DLK1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: DLK1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: DLK1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: DLK1
Phenotype: Coxa valga (HP:0002673)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Scoliosis (HP:0002650)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: DLK1
Phenotype: Scoliosis (HP:0002650)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: DLK1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: DLK1
Phenotype: Wormian bones (HP:0002645)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Open mouth (HP:0000194)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: DLK1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: DLK1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: DLK1
Phenotype: Macroglossia (HP:0000158)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: DLK1
Phenotype: Macroglossia (HP:0000158)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Cleft palate (HP:0000175)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: DLK1
Phenotype: Peripheral retinal avascularization (HP:0007685)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: DLK1
Phenotype: Large placenta (HP:0006267)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: DLK1
Phenotype: Large placenta (HP:0006267)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Large placenta (HP:0006267)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: DLK1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: DLK1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: DLK1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: DLK1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: DLK1
Phenotype: Poor suck (HP:0002033)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: DLK1
Phenotype: Deep philtrum (HP:0002002)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: DLK1
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Decreased facial expression (HP:0004673)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: DLK1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Prominent glabella (HP:0002057)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Thumb contracture (HP:0009600)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: DLK1
Phenotype: Undulate ribs (HP:0010561)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Long toe (HP:0010511)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: DLK1
Phenotype: Chin with horizontal crease (HP:0011823)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Chin with H-shaped crease (HP:0011824)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: DLK1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: DLK1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: DLK1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: DLK1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)