TaoMedAI/RareMedData huggingface dataset:
Gene: HCCS
Phenotype: Abnormal vitreous humor morphology (HP:0004327)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Abnormality of the anus (HP:0004378)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HCCS
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HCCS
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Vitritis (HP:0011531)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Ovotestis (HP:0012861)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Sacral dimple (HP:0000960)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Arrhythmia (HP:0011675)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Retrognathia (HP:0000278)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HCCS
Phenotype: Chorioretinal dysplasia (HP:0007731)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Microcephaly (HP:0000252)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Microcephaly (HP:0000252)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Colpocephaly (HP:0030048)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Growth delay (HP:0001510)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HCCS
Phenotype: Abnormal fallopian tube morphology (HP:0011027)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Histiocytoid cardiomyopathy (HP:0005152)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: High myopia (HP:0011003)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Micrognathia (HP:0000347)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Corneal opacity (HP:0007957)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Wide nose (HP:0000445)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Cataract (HP:0000518)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HCCS
Phenotype: Anophthalmia (HP:0000528)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Glaucoma (HP:0000501)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Cleft earlobe (HP:0011265)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Abnormality of the ear (HP:0000598)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HCCS
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Visual loss (HP:0000572)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: HCCS
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: HCCS
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HCCS
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SERPIND1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEPARIN COFACTOR II DEFICIENCY (OMIM:612356)
Gene: SERPIND1
Phenotype: Post-angioplasty coronary artery restenosis (HP:0004761)
Associated disease: HEPARIN COFACTOR II DEFICIENCY (OMIM:612356)
Gene: SERPIND1
Phenotype: Recurrent deep vein thrombosis (HP:0004850)
Associated disease: HEPARIN COFACTOR II DEFICIENCY (OMIM:612356)
Gene: SERPIND1
Phenotype: Disseminated intravascular coagulation (HP:0005521)
Associated disease: HEPARIN COFACTOR II DEFICIENCY (OMIM:612356)
Gene: HCFC1
Phenotype: Seizure (HP:0001250)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Hypotonia (HP:0001252)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Chorea (HP:0002072)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Homocystinuria (HP:0002156)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Infantile onset (HP:0003593)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Athetosis (HP:0002305)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Short stature (HP:0004322)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Antenatal onset (HP:0030674)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Microcephaly (HP:0000252)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Methylmalonic acidemia (HP:0002912)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCFC1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE (OMIM:309541)
Gene: HCK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS (OMIM:620296)
Gene: HCK
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS (OMIM:620296)
Gene: HCK
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS (OMIM:620296)
Gene: HCK
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS (OMIM:620296)
Gene: HCK
Phenotype: Vasculitis in the skin (HP:0200029)
Associated disease: AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS (OMIM:620296)
Gene: HCK
Phenotype: Neonatal onset (HP:0003623)
Associated disease: AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS (OMIM:620296)
Gene: HCK
Phenotype: Anemia (HP:0001903)
Associated disease: AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS (OMIM:620296)
Gene: HCK
Phenotype: Purpura (HP:0000979)
Associated disease: AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS (OMIM:620296)
Gene: HCK
Phenotype: Petechiae (HP:0000967)
Associated disease: AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS (OMIM:620296)
Gene: HCK
Phenotype: Respiratory failure (HP:0002878)
Associated disease: AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS (OMIM:620296)
Gene: HCK
Phenotype: Interstitial pneumonitis (HP:0006515)
Associated disease: AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS (OMIM:620296)
Gene: HCK
Phenotype: Splenomegaly (HP:0001744)
Associated disease: AUTOINFLAMMATION WITH PULMONARY AND CUTANEOUS VASCULITIS (OMIM:620296)
Gene: HCRT
Phenotype: Abnormal rapid eye movement sleep (HP:0002494)
Associated disease: NARCOLEPSY 1 (OMIM:161400)
Gene: HCRT
Phenotype: Abnormal rapid eye movement sleep (HP:0002494)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: NREM parasomnia (HP:0025235)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Sleep paralysis (HP:0025233)
Associated disease: NARCOLEPSY 1 (OMIM:161400)
Gene: HCRT
Phenotype: Sleep paralysis (HP:0025233)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Syncope (HP:0001279)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: NARCOLEPSY 1 (OMIM:161400)
Gene: HCRT
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Gene: HCRT
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Hypnagogic hallucination (HP:0002519)
Associated disease: NARCOLEPSY 1 (OMIM:161400)
Gene: HCRT
Phenotype: Hypnagogic hallucination (HP:0002519)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Cataplexy (HP:0002524)
Associated disease: NARCOLEPSY 1 (OMIM:161400)
Gene: HCRT
Phenotype: Cataplexy (HP:0002524)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Slurred speech (HP:0001350)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Nocturia (HP:0000017)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NARCOLEPSY 1 (OMIM:161400)
Gene: HCRT
Phenotype: Abnormal pupillary function (HP:0007686)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Constipation (HP:0002019)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Male sexual dysfunction (HP:0040307)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Migraine (HP:0002076)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Transient global amnesia (HP:0010534)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Infantile onset (HP:0003593)
Associated disease: NARCOLEPSY 1 (OMIM:161400)
Gene: HCRT
Phenotype: Insomnia (HP:0100785)
Associated disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Gene: HCRT
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Gene: HCRT
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Paroxysmal drowsiness (HP:0002330)
Associated disease: NARCOLEPSY 1 (OMIM:161400)
Gene: HCRT
Phenotype: Drooling (HP:0002307)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)
Gene: HCRT
Phenotype: Hypnopompic hallucination (HP:0006896)
Associated disease: NARCOLEPSY 1 (OMIM:161400)
Gene: HCRT
Phenotype: Hypnopompic hallucination (HP:0006896)
Associated disease: Gélineau disease; Narcolepsy type 1; Narcolepsy-cataplexy; Hypocretin/orexin deficiency syndrome (ORPHA:2073)