TaoMedAI/RareMedData huggingface dataset:
Gene: PEX16
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Childhood onset (HP:0011463)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Ankle clonus (HP:0011448)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Jaundice (HP:0000952)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
Gene: PEX16
Phenotype: Jaundice (HP:0000952)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: Epicanthus (HP:0000286)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: Microcephaly (HP:0000252)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: High palate (HP:0000218)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Death in infancy (HP:0001522)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
Gene: PEX16
Phenotype: Death in infancy (HP:0001522)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Flat face (HP:0012368)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: High forehead (HP:0000348)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: High forehead (HP:0000348)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Micrognathia (HP:0000347)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
Gene: PEX16
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Premature birth (HP:0001622)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Strabismus (HP:0000486)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: Brain atrophy (HP:0012444)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Flat occiput (HP:0005469)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Cataract (HP:0000518)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Cataract (HP:0000518)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Cataract (HP:0000518)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
Gene: PEX16
Phenotype: Cataract (HP:0000518)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: Cataract (HP:0000518)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Ptosis (HP:0000508)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: Visual impairment (HP:0000505)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Visual impairment (HP:0000505)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Visual impairment (HP:0000505)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: Visual impairment (HP:0000505)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Glaucoma (HP:0000501)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Dysesthesia (HP:0012534)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: ARHGAP29
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Cleft palate (HP:0000175)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Abnormality of dental eruption (HP:0006292)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Poor suck (HP:0002033)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Agenesis of lateral incisor (HP:0200153)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Malnutrition (HP:0004395)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Bilateral cleft palate (HP:0100337)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Unilateral cleft palate (HP:0100334)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Palate fistula (HP:0010294)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Abnormal number of permanent teeth (HP:0011044)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: ARHGAP29
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: TJP2
Phenotype: Steatorrhea (HP:0002570)
Associated disease: HYPERCHOLANEMIA, FAMILIAL 1 (OMIM:607748)
Gene: TJP2
Phenotype: Hepatic failure (HP:0001399)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4 (OMIM:615878)
Gene: TJP2
Phenotype: Cirrhosis (HP:0001394)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4 (OMIM:615878)
Gene: TJP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4 (OMIM:615878)
Gene: TJP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERCHOLANEMIA, FAMILIAL 1 (OMIM:607748)
Gene: TJP2
Phenotype: Fat malabsorption (HP:0002630)
Associated disease: HYPERCHOLANEMIA, FAMILIAL 1 (OMIM:607748)
Gene: TJP2
Phenotype: Portal hypertension (HP:0001409)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4 (OMIM:615878)
Gene: TJP2
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4 (OMIM:615878)
Gene: TJP2
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4 (OMIM:615878)
Gene: TJP2
Phenotype: Rickets (HP:0002748)
Associated disease: HYPERCHOLANEMIA, FAMILIAL 1 (OMIM:607748)
Gene: TJP2
Phenotype: Decreased circulating vitamin K concentration (HP:0011892)
Associated disease: HYPERCHOLANEMIA, FAMILIAL 1 (OMIM:607748)
Gene: TJP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4 (OMIM:615878)
Gene: TJP2
Phenotype: Progressive (HP:0003676)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4 (OMIM:615878)
Gene: TJP2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4 (OMIM:615878)
Gene: TJP2
Phenotype: Pruritus (HP:0000989)
Associated disease: HYPERCHOLANEMIA, FAMILIAL 1 (OMIM:607748)
Gene: TJP2
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: HYPERCHOLANEMIA, FAMILIAL 1 (OMIM:607748)
Gene: TJP2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HYPERCHOLANEMIA, FAMILIAL 1 (OMIM:607748)
Gene: CRIPT
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Syndactyly (HP:0001159)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Recurrent infections (HP:0002719)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Short digit (HP:0011927)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Congenital onset (HP:0003577)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Severe short stature (HP:0003510)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Anisopoikilocytosis (HP:0004823)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Gene: CRIPT
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRIPT
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRIPT
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)