TaoMedAI/RareMedData huggingface dataset:
Gene: RNU4ATAC
Phenotype: Osteopenia (HP:0000938)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Hypoplastic ilia (HP:0000946)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Sparse hair (HP:0008070)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Sparse hair (HP:0008070)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Retrognathia (HP:0000278)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Alopecia (HP:0001596)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Malar flattening (HP:0000272)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Prominent occiput (HP:0000269)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Absent knee epiphyses (HP:0006400)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Coxa vara (HP:0002812)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Arthralgia (HP:0002829)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Hip dislocation (HP:0002827)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Hip dislocation (HP:0002827)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Irregular capital femoral epiphysis (HP:0005041)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Irregular femoral epiphysis (HP:0006361)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Small anterior fontanelle (HP:0000237)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Microcephaly (HP:0000252)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Microcephaly (HP:0000252)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Microcephaly (HP:0000252)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Microcephaly (HP:0000252)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Death in infancy (HP:0001522)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Colpocephaly (HP:0030048)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Small for gestational age (HP:0001518)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Low-set ears (HP:0000369)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Low-set ears (HP:0000369)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Sloping forehead (HP:0000340)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Long philtrum (HP:0000343)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Long philtrum (HP:0000343)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Micrognathia (HP:0000347)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Micrognathia (HP:0000347)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Micromelia (HP:0002983)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Micromelia (HP:0002983)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Femoral bowing (HP:0002980)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Round face (HP:0000311)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Short chin (HP:0000331)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Short philtrum (HP:0000322)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Breech presentation (HP:0001623)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Premature birth (HP:0001622)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Premature birth (HP:0001622)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Aplastic clavicle (HP:0006660)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Astigmatism (HP:0000483)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Hyperconvex nail (HP:0001795)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Narrow nose (HP:0000460)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Short neck (HP:0000470)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Short neck (HP:0000470)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Short foot (HP:0001773)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Prominent nose (HP:0000448)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Prominent nose (HP:0000448)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Prominent nose (HP:0000448)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Decreased T cell activation (HP:0005419)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Proptosis (HP:0000520)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Proptosis (HP:0000520)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Long foot (HP:0001833)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Visual impairment (HP:0000505)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Glaucoma (HP:0000501)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Short toe (HP:0001831)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Short toe (HP:0001831)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Prominent eyelashes (HP:0011231)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Prominent eyelashes (HP:0011231)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)