TaoMedAI/RareMedData huggingface dataset:
Gene: TRPV6
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Metaphyseal spurs (HP:0005054)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Brachycephaly (HP:0000248)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: TRPV6
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Pancreatic calcification (HP:0005213)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: TRPV6
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Low-set ears (HP:0000369)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: High forehead (HP:0000348)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Femoral bowing (HP:0002980)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Subperiosteal bone formation (HP:0031485)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Anteverted nares (HP:0000463)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Splanchnic vein thrombosis (HP:0030247)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: TRPV6
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Gene: TRPV6
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Splenic cyst (HP:0030423)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: TRPV6
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NOP10
Phenotype: Epiphora (HP:0009926)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Death in childhood (HP:0003819)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2 (OMIM:620425)
Gene: NOP10
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2 (OMIM:620425)
Gene: NOP10
Phenotype: Hepatic failure (HP:0001399)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Cirrhosis (HP:0001394)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Neoplasm (HP:0002664)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2 (OMIM:620425)
Gene: NOP10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Lymphoma (HP:0002665)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 9 (OMIM:620400)
Gene: NOP10
Phenotype: Scoliosis (HP:0002650)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2 (OMIM:620425)
Gene: NOP10
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Reticular hyperpigmentation (HP:0007588)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2 (OMIM:620425)
Gene: NOP10
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Malabsorption (HP:0002024)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Esophageal stricture (HP:0002043)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Esophageal stenosis (HP:0010450)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2 (OMIM:620425)
Gene: NOP10
Phenotype: Nail pterygium (HP:0002165)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Congenital onset (HP:0003577)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2 (OMIM:620425)
Gene: NOP10
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Adult onset (HP:0003581)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 9 (OMIM:620400)
Gene: NOP10
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 9 (OMIM:620400)
Gene: NOP10
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Aplastic/hypoplastic toenail (HP:0010624)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Pterygium (HP:0001059)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Skin vesicle (HP:0200037)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Displacement of the urethral meatus (HP:0100627)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Skin ulcer (HP:0200042)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Abnormality of the pharynx (HP:0000600)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Leukemia (HP:0001909)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 9 (OMIM:620400)
Gene: NOP10
Phenotype: Anemia (HP:0001903)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: White hair (HP:0011364)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Taurodontia (HP:0000679)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Microdontia (HP:0000691)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Carious teeth (HP:0000670)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Carious teeth (HP:0000670)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Hypodontia (HP:0000668)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Short stature (HP:0004322)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Enterocolitis (HP:0004387)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2 (OMIM:620425)
Gene: NOP10
Phenotype: Anorectal anomaly (HP:0012732)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Macule (HP:0012733)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Periodontitis (HP:0000704)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Osteoporosis (HP:0000939)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Osteoporosis (HP:0000939)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Sparse hair (HP:0008070)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Alopecia (HP:0001596)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Short telomere length (HP:0031413)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 9 (OMIM:620400)
Gene: NOP10
Phenotype: Microcephaly (HP:0000252)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Blepharitis (HP:0000498)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Small nail (HP:0001792)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Splenomegaly (HP:0001744)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Cataract (HP:0000518)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2 (OMIM:620425)
Gene: NOP10
Phenotype: Cataract (HP:0000518)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Mesangial hypercellularity (HP:0012574)
Associated disease: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2 (OMIM:620425)
Gene: NOP10
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 9 (OMIM:620400)
Gene: NOP10
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: NOP10
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: NOP10
Phenotype: Pancytopenia (HP:0001876)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 (OMIM:224230)
Gene: TRIM36
Phenotype: Spina bifida (HP:0002414)
Associated disease: ANENCEPHALY (OMIM:206500)
Gene: TRIM36
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANENCEPHALY (OMIM:206500)
Gene: TRIM36
Phenotype: Congenital onset (HP:0003577)
Associated disease: ANENCEPHALY (OMIM:206500)
Gene: TRIM36
Phenotype: Anencephaly (HP:0002323)
Associated disease: ANENCEPHALY (OMIM:206500)
Gene: DHTKD1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q (OMIM:615025)
Gene: DHTKD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA (OMIM:204750)
Gene: DHTKD1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q (OMIM:615025)
Gene: DHTKD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA (OMIM:204750)
Gene: DHTKD1
Phenotype: Alpha-aminoadipic aciduria (HP:0410309)
Associated disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA (OMIM:204750)
Gene: DHTKD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA (OMIM:204750)
Gene: DHTKD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q (OMIM:615025)
Gene: DHTKD1
Phenotype: 2-hydroxyadipic aciduria (HP:0034465)
Associated disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA (OMIM:204750)
Gene: DHTKD1
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q (OMIM:615025)
Gene: DHTKD1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA (OMIM:204750)
Gene: DHTKD1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q (OMIM:615025)
Gene: DHTKD1
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q (OMIM:615025)
Gene: DHTKD1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q (OMIM:615025)
Gene: DHTKD1
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA (OMIM:204750)
Gene: DHTKD1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA (OMIM:204750)
Gene: DHTKD1
Phenotype: Young adult onset (HP:0011462)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q (OMIM:615025)
Gene: DHTKD1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q (OMIM:615025)
Gene: DHTKD1
Phenotype: Microcephaly (HP:0000252)
Associated disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA (OMIM:204750)
Gene: DHTKD1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q (OMIM:615025)
Gene: SLC30A10
Phenotype: Abnormal globus pallidus morphology (HP:0002453)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Astrocytosis (HP:0002446)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Increased total iron binding capacity (HP:0025196)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Gene: SLC30A10
Phenotype: Increased total iron binding capacity (HP:0025196)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Gene: SLC30A10
Phenotype: Abnormal blood inorganic cation concentration (HP:0010927)
Associated disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)