TaoMedAI/RareMedData huggingface dataset:
Gene: SRD5A3
Phenotype: Low-set ears (HP:0000369)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Facial hemangioma (HP:0000329)
Associated disease: KAHRIZI SYNDROME (OMIM:612713)
Gene: SRD5A3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: KAHRIZI SYNDROME (OMIM:612713)
Gene: SRD5A3
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Bulbous nose (HP:0000414)
Associated disease: KAHRIZI SYNDROME (OMIM:612713)
Gene: SRD5A3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: KAHRIZI SYNDROME (OMIM:612713)
Gene: SRD5A3
Phenotype: Cataract (HP:0000518)
Associated disease: KAHRIZI SYNDROME (OMIM:612713)
Gene: SRD5A3
Phenotype: Cataract (HP:0000518)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Cataract (HP:0000518)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SRD5A3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SRD5A3
Phenotype: Coloboma (HP:0000589)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Coloboma (HP:0000589)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Visual loss (HP:0000572)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Visual loss (HP:0000572)
Associated disease: SRD5A3-CDG; CDG-Iq; Congenital disorder of glycosylation type Iq; CDG syndrome type Iq; CDG1Q; Congenital disorder of glycosylation type 1q (ORPHA:324737)
Gene: SRD5A3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq (OMIM:612379)
Gene: SRD5A3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SRD5A3
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLXN
Phenotype: Right aortic arch (HP:0012020)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Hypoplastic spleen (HP:0006270)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Abdominal situs inversus (HP:0003363)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Infantile onset (HP:0003593)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Antenatal onset (HP:0030674)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Ductus venosus agenesis (HP:0034196)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Common atrium (HP:0011565)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: CLXN
Phenotype: Polysplenia (HP:0001748)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Gene: MCPH1
Phenotype: Small cerebral cortex (HP:0002472)
Associated disease: MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:251200)
Gene: MCPH1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCPH1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCPH1
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:251200)
Gene: MCPH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:251200)
Gene: MCPH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCPH1
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCPH1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCPH1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCPH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:251200)
Gene: MCPH1
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCPH1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCPH1
Phenotype: Increased rate of premature chromosome condensation (HP:0003451)
Associated disease: MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:251200)
Gene: MCPH1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCPH1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:251200)
Gene: MCPH1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCPH1
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:251200)
Gene: MCPH1
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCPH1
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:251200)
Gene: MCPH1
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCPH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCPH1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCPH1
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCPH1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: MCPH1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: USB1
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Plantar hyperkeratosis (HP:0007556)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Neoplasm (HP:0002664)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Lymphoma (HP:0002665)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Reticular hyperpigmentation (HP:0007588)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Oral leukoplakia (HP:0002745)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Malabsorption (HP:0002024)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Esophageal stenosis (HP:0010450)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Infantile onset (HP:0003593)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Premature graying of hair (HP:0002216)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Aplastic/hypoplastic toenail (HP:0010624)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Poikiloderma (HP:0001029)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Telangiectasia (HP:0001009)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Skin vesicle (HP:0200037)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Displacement of the urethral meatus (HP:0100627)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Abnormality of the pharynx (HP:0000600)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Anemia (HP:0001903)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: White hair (HP:0011364)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Taurodontia (HP:0000679)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Carious teeth (HP:0000670)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Carious teeth (HP:0000670)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Short stature (HP:0004322)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Short stature (HP:0004322)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Anorectal anomaly (HP:0012732)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Macule (HP:0012733)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Periodontitis (HP:0000704)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Short nose (HP:0003196)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Skin rash (HP:0000988)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Edema (HP:0000969)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Sparse hair (HP:0008070)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Retrognathia (HP:0000278)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Alopecia (HP:0001596)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Growth delay (HP:0001510)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Recurrent bronchopulmonary infections (HP:0006538)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Long philtrum (HP:0000343)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Micrognathia (HP:0000347)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Blepharitis (HP:0000498)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Blepharitis (HP:0000498)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Cataract (HP:0000518)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: USB1
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: USB1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: POIKILODERMA WITH NEUTROPENIA (OMIM:604173)
Gene: RHBDF2
Phenotype: Diffuse palmoplantar hyperkeratosis (HP:0007447)
Associated disease: TYLOSIS WITH ESOPHAGEAL CANCER (OMIM:148500)