33 106 0 http://www.ebi.ac.uk/efo/EFO_0009332 executive function measurement 'executive function measurement' SubClassOf 'is_about' some 'unipolar depression' 'executive function measurement' SubClassOf 'is_about' some 'major depressive disorder' http://purl.obolibrary.org/obo/HP_0000252 Microcephaly 'Microcephaly' SubClassOf 'Abnormal brain morphology' 'Microcephaly' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 http://www.ebi.ac.uk/efo/EFO_0700023 bleeding diathesis due to thromboxane synthesis deficiency 'bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'inherited bleeding disorder, platelet-type' 'bleeding diathesis due to thromboxane synthesis deficiency' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0002009 major depressive disorder 'major depressive disorder' SubClassOf 'depressive disorder' 'major depressive disorder' SubClassOf 'depressive disorder' http://purl.obolibrary.org/obo/HP_0009717 Cortical tubers 'Cortical tubers' SubClassOf 'Abnormal brain morphology' 'Cortical tubers' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 http://www.ebi.ac.uk/efo/EFO_0009854 treatment resistant depression 'treatment resistant depression' SubClassOf 'unipolar depression' 'treatment resistant depression' SubClassOf 'major depressive disorder' http://purl.obolibrary.org/obo/HP_0001331 Absent septum pellucidum 'Absent septum pellucidum' SubClassOf 'Abnormal brain morphology' 'Absent septum pellucidum' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 http://purl.obolibrary.org/obo/HP_0011170 Generalized myoclonic-atonic seizure 'Generalized myoclonic-atonic seizure' SubClassOf 'Seizure' 'Generalized myoclonic-atonic seizure' SubClassOf http://purl.obolibrary.org/obo/HP_0002197 http://www.ebi.ac.uk/efo/EFO_0003761 unipolar depression 'unipolar depression' SubClassOf 'depressive disorder' 'unipolar depression' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013051 autosomal recessive cutis laxa type 2B 'autosomal recessive cutis laxa type 2B' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022836 http://purl.obolibrary.org/obo/MONDO_0013459 osteogenesis imperfecta type 10 'osteogenesis imperfecta type 10' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022836 http://purl.obolibrary.org/obo/HP_0006872 Cerebral hypoplasia 'Cerebral hypoplasia' SubClassOf 'Abnormal brain morphology' 'Cerebral hypoplasia' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 http://purl.obolibrary.org/obo/HP_0002185 Neurofibrillary tangles 'Neurofibrillary tangles' SubClassOf 'Abnormal brain morphology' 'Neurofibrillary tangles' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 http://purl.obolibrary.org/obo/HP_0002140 Ischemic stroke 'Ischemic stroke' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 http://purl.obolibrary.org/obo/HP_0002121 Generalized non-motor (absence) seizure 'Generalized non-motor (absence) seizure' SubClassOf 'Seizure' 'Generalized non-motor (absence) seizure' SubClassOf http://purl.obolibrary.org/obo/HP_0002197 http://purl.obolibrary.org/obo/HP_0002123 Generalized myoclonic seizure 'Generalized myoclonic seizure' SubClassOf 'Seizure' 'Generalized myoclonic seizure' SubClassOf http://purl.obolibrary.org/obo/HP_0002197 http://purl.obolibrary.org/obo/HP_0002134 Abnormal basal ganglia morphology 'Abnormal basal ganglia morphology' SubClassOf 'Abnormal brain morphology' 'Abnormal basal ganglia morphology' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 http://purl.obolibrary.org/obo/HP_0002059 Cerebral atrophy 'Cerebral atrophy' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 http://purl.obolibrary.org/obo/HP_0002352 Leukoencephalopathy 'Leukoencephalopathy' SubClassOf 'Abnormal brain morphology' 'Leukoencephalopathy' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 http://purl.obolibrary.org/obo/HP_0002500 Abnormal cerebral white matter morphology 'Abnormal cerebral white matter morphology' SubClassOf 'Abnormal brain morphology' 'Abnormal cerebral white matter morphology' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 http://purl.obolibrary.org/obo/HP_0002514 Cerebral calcification 'Cerebral calcification' SubClassOf 'Abnormal brain morphology' 'Cerebral calcification' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 http://purl.obolibrary.org/obo/HP_0002536 Abnormal cortical gyration 'Abnormal cortical gyration' SubClassOf 'Abnormal brain morphology' 'Abnormal cortical gyration' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 http://purl.obolibrary.org/obo/MONDO_0018163 autosomal recessive cutis laxa type 2A 'autosomal recessive cutis laxa type 2A' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022836 http://purl.obolibrary.org/obo/HP_0032059 Mild malformation of cortical development 'Mild malformation of cortical development' SubClassOf 'Abnormal brain morphology' 'Mild malformation of cortical development' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 http://purl.obolibrary.org/obo/HP_0007236 Recurrent subcortical infarcts 'Recurrent subcortical infarcts' SubClassOf 'Abnormal brain morphology' 'Recurrent subcortical infarcts' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 http://purl.obolibrary.org/obo/HP_0007313 Cerebral degeneration 'Cerebral degeneration' SubClassOf http://purl.obolibrary.org/obo/HP_0002060 http://www.ebi.ac.uk/efo/EFO_0007453 postpartum depression 'postpartum depression' SubClassOf 'unipolar depression' 'postpartum depression' SubClassOf 'major depressive disorder' http://purl.obolibrary.org/obo/MONDO_0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive 'channelopathy-associated congenital insensitivity to pain, autosomal recessive' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022837 http://purl.obolibrary.org/obo/MONDO_0030861 osteogenesis imperfecta, type 21 'osteogenesis imperfecta, type 21' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022836 http://purl.obolibrary.org/obo/MONDO_0030714 osteogenesis imperfecta, IIA 22 'osteogenesis imperfecta, IIA 22' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022836 http://www.ebi.ac.uk/efo/EFO_0006340 mean arterial pressure 'mean arterial pressure' SubClassOf 'cardiovascular measurement' http://www.ebi.ac.uk/efo/EFO_0006336 diastolic blood pressure 'diastolic blood pressure' SubClassOf 'cardiovascular measurement' http://www.ebi.ac.uk/efo/EFO_0006335 systolic blood pressure 'systolic blood pressure' SubClassOf 'cardiovascular measurement' http://purl.obolibrary.org/obo/MONDO_0800447 bleeding disorder, platelet-type, 13, susceptibility to 'bleeding disorder, platelet-type, 13, susceptibility to' SubClassOf 'inherited disease susceptibility' 'bleeding disorder, platelet-type, 13, susceptibility to' SubClassOf 'predisposes towards' some 'bleeding diathesis due to thromboxane synthesis deficiency' http://purl.obolibrary.org/obo/MONDO_0800477 SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth 'SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth' SubClassOf 'hereditary neurological disease' 'SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth' SubClassOf 'developmental disorder of mental health' http://purl.obolibrary.org/obo/MONDO_0021016 obsolete channelopathy 'obsolete channelopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0004935 Pulmonary artery atresia 'Pulmonary artery atresia' SubClassOf 'Abnormal lung morphology' 'Pulmonary artery atresia' SubClassOf 'Abnormal cardiovascular system morphology' 'Pulmonary artery atresia' SubClassOf 'Abnormality of the vasculature' http://purl.obolibrary.org/obo/HP_0000105 Enlarged kidney 'Enlarged kidney' SubClassOf 'Abnormal renal morphology' http://purl.obolibrary.org/obo/MONDO_0100519 epilepsy, idiopathic generalized, susceptibility to, 17 'epilepsy, idiopathic generalized, susceptibility to, 17' SubClassOf 'inherited disease susceptibility' 'epilepsy, idiopathic generalized, susceptibility to, 17' SubClassOf 'predisposes towards' some 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0858921 EWSR1-negative small round cell tumor 'EWSR1-negative small round cell tumor' SubClassOf 'small cell sarcoma' http://purl.obolibrary.org/obo/MONDO_0100465 complex neurodevelopmental disorder with or without congenital anomalies 'complex neurodevelopmental disorder with or without congenital anomalies' SubClassOf 'complex neurodevelopmental disorder' http://purl.obolibrary.org/obo/HP_0009589 Bilateral vestibular schwannoma 'Bilateral vestibular schwannoma' SubClassOf 'Vestibular schwannoma' http://www.ebi.ac.uk/efo/EFO_0803690 anti-hepatitis E virus antibody measurement 'anti-hepatitis E virus antibody measurement' SubClassOf 'antibody measurement' http://www.ebi.ac.uk/efo/EFO_0803691 anti-TSST-1 antibody measurement 'anti-TSST-1 antibody measurement' SubClassOf 'antibody measurement' http://www.ebi.ac.uk/efo/EFO_0803692 anti-hepatitis B virus antibody measurement 'anti-hepatitis B virus antibody measurement' SubClassOf 'antibody measurement' http://purl.obolibrary.org/obo/MONDO_0956989 CIC-rearranged sarcoma 'CIC-rearranged sarcoma' SubClassOf 'EWSR1-negative small round cell tumor' http://purl.obolibrary.org/obo/MONDO_0957196 diffuse midline glioma, H3 K27M-mutant 'diffuse midline glioma, H3 K27M-mutant' SubClassOf 'diffuse intrinsic pontine glioma' http://purl.obolibrary.org/obo/HP_0040298 Hyperplasia of the endometrium 'Hyperplasia of the endometrium' SubClassOf 'Abnormality of the uterus' http://purl.obolibrary.org/obo/MONDO_0859082 thrombophilia, X-linked, due to factor 8 defect 'thrombophilia, X-linked, due to factor 8 defect' SubClassOf 'inherited thrombophilia' http://purl.obolibrary.org/obo/MONDO_0859178 developmental delay, impaired speech, and behavioral abnormalities 'developmental delay, impaired speech, and behavioral abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859168 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy 'myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0859165 neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities 'neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859152 neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 'neurodevelopmental disorder with cerebellar atrophy and motor dysfunction' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859148 neurodevelopmental disorder with seizures and gingival overgrowth 'neurodevelopmental disorder with seizures and gingival overgrowth' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0957577 variegate porphyria, childhood-onset 'variegate porphyria, childhood-onset' SubClassOf 'variegate porphyria' http://purl.obolibrary.org/obo/MONDO_0859193 neuroocular syndrome 'neuroocular syndrome' SubClassOf 'hereditary neurological disease' 'neuroocular syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0859186 Chopra-Amiel-Gordon syndrome 'Chopra-Amiel-Gordon syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859179 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 'neurodevelopmental disorder with dysmorphic facies and thin corpus callosum' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0957284 nemaline myopathy 5C, autosomal dominant 'nemaline myopathy 5C, autosomal dominant' SubClassOf 'nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0957278 oocyte/zygote/embryo maturation arrest 20 'oocyte/zygote/embryo maturation arrest 20' SubClassOf 'inherited oocyte maturation defect' http://purl.obolibrary.org/obo/MONDO_0957273 Charcot-Marie-Tooth disease, dominant intermediate A 'Charcot-Marie-Tooth disease, dominant intermediate A' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0957266 RECON progeroid syndrome 'RECON progeroid syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957252 ciliary dyskinesia, primary, 50 'ciliary dyskinesia, primary, 50' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0957215 congenital myopathy 20 'congenital myopathy 20' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0957397 intellectual developmental disorder, autosomal dominant 72 'intellectual developmental disorder, autosomal dominant 72' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0957317 hematuria, benign familial 'hematuria, benign familial' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0025569 Polypoidal choroidal vasculopathy 'Polypoidal choroidal vasculopathy' SubClassOf 'Abnormal choroid morphology' http://purl.obolibrary.org/obo/MONDO_0007709 hematuria, benign familial, 1 'hematuria, benign familial, 1' SubClassOf 'hematuria, benign familial' http://purl.obolibrary.org/obo/MONDO_0007617 Coffin-Siris syndrome 1 'Coffin-Siris syndrome 1' SubClassOf 'autosomal dominant disease' 'Coffin-Siris syndrome 1' SubClassOf 'Coffin-Siris syndrome' 'Coffin-Siris syndrome 1' SubClassOf 'BAFopathy' http://purl.obolibrary.org/obo/HP_0011163 Focal sensory seizure with somatosensory features 'Focal sensory seizure with somatosensory features' SubClassOf 'Focal-onset seizure' http://purl.obolibrary.org/obo/MONDO_0007335 orofacial cleft 1 'orofacial cleft 1' SubClassOf 'orofacial cleft' http://purl.obolibrary.org/obo/MONDO_0859531 neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 'neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859521 oocyte maturation defect 14 'oocyte maturation defect 14' SubClassOf 'inherited oocyte maturation defect' http://purl.obolibrary.org/obo/MONDO_0859523 congenital myopathy 2c, severe infantile, autosomal dominant 'congenital myopathy 2c, severe infantile, autosomal dominant' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0859516 neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum 'neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0013819 intellectual disability, autosomal dominant 14 'intellectual disability, autosomal dominant 14' SubClassOf 'Coffin-Siris syndrome' 'intellectual disability, autosomal dominant 14' SubClassOf 'BAFopathy' 'intellectual disability, autosomal dominant 14' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0013821 intellectual disability, autosomal dominant 16 'intellectual disability, autosomal dominant 16' SubClassOf 'autosomal dominant disease' 'intellectual disability, autosomal dominant 16' SubClassOf 'Coffin-Siris syndrome' 'intellectual disability, autosomal dominant 16' SubClassOf 'BAFopathy' http://purl.obolibrary.org/obo/MONDO_0859292 developmental delay, behavioral abnormalities, and neuropsychiatric disorders 'developmental delay, behavioral abnormalities, and neuropsychiatric disorders' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859286 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 'neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859260 Dworschak-Punetha neurodevelopmental syndrome 'Dworschak-Punetha neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859262 ACCES syndrome 'ACCES syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 'intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859243 neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 'neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859235 auditory neuropathy, autosomal dominant 3 'auditory neuropathy, autosomal dominant 3' SubClassOf 'auditory neuropathy' http://purl.obolibrary.org/obo/MONDO_0859230 Kury-Isidor syndrome 'Kury-Isidor syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859232 neurodevelopmental disorder with central hypotonia and dysmorphic facies 'neurodevelopmental disorder with central hypotonia and dysmorphic facies' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859224 intellectual disability and myopathy syndrome 'intellectual disability and myopathy syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859225 neurodevelopmental disorder with or without variable movement or behavioral abnormalities 'neurodevelopmental disorder with or without variable movement or behavioral abnormalities' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859212 neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 'neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859206 neurodevelopmental disorder with hearing loss and spasticity 'neurodevelopmental disorder with hearing loss and spasticity' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859201 neurodevelopmental disorder with impaired language and ataxia and with or without seizures 'neurodevelopmental disorder with impaired language and ataxia and with or without seizures' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0957811 Alport syndrome 3b, autosomal recessive 'Alport syndrome 3b, autosomal recessive' SubClassOf 'Alport syndrome' http://purl.obolibrary.org/obo/MONDO_0859339 tooth agenesis, selective, 10 'tooth agenesis, selective, 10' SubClassOf 'tooth agenesis' http://purl.obolibrary.org/obo/MONDO_0859333 intellectual developmental disorder, autosomal dominant 70 'intellectual developmental disorder, autosomal dominant 70' SubClassOf 'SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth' 'intellectual developmental disorder, autosomal dominant 70' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0859332 cortical dysplasia, complex, with other brain malformations 11 'cortical dysplasia, complex, with other brain malformations 11' SubClassOf 'complex cortical dysplasia with other brain malformations' http://purl.obolibrary.org/obo/MONDO_0013266 intellectual disability, autosomal dominant 20 'intellectual disability, autosomal dominant 20' SubClassOf 'autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013224 rhabdoid tumor predisposition syndrome 2 'rhabdoid tumor predisposition syndrome 2' SubClassOf 'familial rhabdoid tumor' 'rhabdoid tumor predisposition syndrome 2' SubClassOf 'hereditary neurological disease' 'rhabdoid tumor predisposition syndrome 2' SubClassOf 'atypical teratoid rhabdoid tumor' http://purl.obolibrary.org/obo/MONDO_0958332 neuromuscular disorder, congenital, with dysmorphic facies 'neuromuscular disorder, congenital, with dysmorphic facies' SubClassOf 'hereditary neuromuscular disease' http://purl.obolibrary.org/obo/MONDO_0958323 neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities 'neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0958326 macular dystrophy with or without cone dysfunction 'macular dystrophy with or without cone dysfunction' SubClassOf 'hereditary macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0958329 Jeffries-Lakhani neurodevelopmental syndrome 'Jeffries-Lakhani neurodevelopmental syndrome' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0958185 mitochondrial trifunctional protein deficiency 2 'mitochondrial trifunctional protein deficiency 2' SubClassOf 'mitochondrial trifunctional protein deficiency' http://purl.obolibrary.org/obo/MONDO_0958240 neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities 'neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0958237 isolated hyperferritinemia 'isolated hyperferritinemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008233 pheochromocytoma 'pheochromocytoma' SubClassOf 'benign neoplasm of adrenal gland' 'pheochromocytoma' SubClassOf 'hereditary pheochromocytoma-paraganglioma' http://purl.obolibrary.org/obo/MONDO_0958204 intellectual developmental disorder, autosomal recessive 81 'intellectual developmental disorder, autosomal recessive 81' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/HP_0002197 Generalized-onset seizure 'Generalized-onset seizure' SubClassOf 'Seizure' http://purl.obolibrary.org/obo/HP_0002151 Increased circulating lactate concentration 'Increased circulating lactate concentration' SubClassOf 'Acidosis' http://purl.obolibrary.org/obo/HP_0002060 Abnormal cerebral morphology 'Abnormal cerebral morphology' SubClassOf 'Abnormal brain morphology' http://purl.obolibrary.org/obo/MONDO_0023664 spermatogenic failure 54 'spermatogenic failure 54' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0958071 Hao-Fountain syndrome due to USP7 mutation 'Hao-Fountain syndrome due to USP7 mutation' SubClassOf 'Mendelian neurodevelopmental disorder' 'Hao-Fountain syndrome due to USP7 mutation' SubClassOf 'Hao-Fountain syndrome' http://purl.obolibrary.org/obo/MONDO_0958009 spastic ataxia 10, autosomal recessive 'spastic ataxia 10, autosomal recessive' SubClassOf 'spastic ataxia' http://purl.obolibrary.org/obo/HP_0032025 Reduced circulating alpha-1-antitrypsin concentration 'Reduced circulating alpha-1-antitrypsin concentration' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/MONDO_0024530 Bethlem myopathy 1A 'Bethlem myopathy 1A' SubClassOf 'collagen 6-related myopathy' 'Bethlem myopathy 1A' SubClassOf 'Bethlem myopathy' http://www.ebi.ac.uk/efo/EFO_0022837 congenital indifference to pain 'congenital indifference to pain' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0022836 osteogenesis imperfecta, recessive 'osteogenesis imperfecta, recessive' SubClassOf 'osteogenesis imperfecta' http://www.ebi.ac.uk/efo/EFO_0022839 STORM-seq 'STORM-seq' SubClassOf 'RNA assay' 'STORM-seq' SubClassOf 'Smart-like' http://www.ebi.ac.uk/efo/EFO_0022838 HUDEP-2 'HUDEP-2' SubClassOf 'iPSC derived cell line' http://www.ebi.ac.uk/efo/EFO_0022840 Illumina NovaSeq X 'Illumina NovaSeq X' SubClassOf 'high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0022842 mosaic loss of chromosome X measurement 'mosaic loss of chromosome X measurement' SubClassOf 'genomic measurement' http://www.ebi.ac.uk/efo/EFO_0022841 Illumina NovaSeq X Plus 'Illumina NovaSeq X Plus' SubClassOf 'high throughput sequencer' http://purl.obolibrary.org/obo/MONDO_0700271 CHEK2-related cancer predisposition 'CHEK2-related cancer predisposition' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0700248 epidermolytic hyperkeratosis 2A, autosomal dominant 'epidermolytic hyperkeratosis 2A, autosomal dominant' SubClassOf 'autosomal dominant epidermolytic ichthyosis' 'epidermolytic hyperkeratosis 2A, autosomal dominant' SubClassOf 'epidermolytic hyperkeratosis 2' http://purl.obolibrary.org/obo/MONDO_0968947 neurodevelopmental disorder plus optic atrophy 'neurodevelopmental disorder plus optic atrophy' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0968945 neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder 'neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0009681 Ullrich congenital muscular dystrophy 1A 'Ullrich congenital muscular dystrophy 1A' SubClassOf 'collagen 6-related myopathy' 'Ullrich congenital muscular dystrophy 1A' SubClassOf 'Ullrich congenital muscular dystrophy' http://purl.obolibrary.org/obo/HP_0003233 Decreased HDL cholesterol concentration 'Decreased HDL cholesterol concentration' SubClassOf 'Abnormal circulating lipid concentration' http://purl.obolibrary.org/obo/MONDO_0009136 dyskeratosis congenita, autosomal recessive 1 'dyskeratosis congenita, autosomal recessive 1' SubClassOf 'dyskeratosis congenita' http://purl.obolibrary.org/obo/MONDO_0030438 pontocerebellar hypoplasia, type 16 'pontocerebellar hypoplasia, type 16' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0030455 dystonia 31 'dystonia 31' SubClassOf 'inherited dystonia' http://purl.obolibrary.org/obo/MONDO_0030453 developmental and epileptic encephalopathy 97 'developmental and epileptic encephalopathy 97' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030463 spermatogenic failure 58 'spermatogenic failure 58' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030317 cardiomyopathy, familial hypertrophic, 28 'cardiomyopathy, familial hypertrophic, 28' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive 'inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive' SubClassOf 'inflammatory bowel disease' http://purl.obolibrary.org/obo/MONDO_0030323 spinocerebellar ataxia, autosomal recessive 31 'spinocerebellar ataxia, autosomal recessive 31' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0030891 intellectual developmental disorder, autosomal dominant 66 'intellectual developmental disorder, autosomal dominant 66' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0030731 aortic aneurysm, familial thoracic 12 'aortic aneurysm, familial thoracic 12' SubClassOf 'familial thoracic aortic aneurysm and aortic dissection' http://purl.obolibrary.org/obo/MONDO_0030770 congenital disorder of deglycosylation 2 'congenital disorder of deglycosylation 2' SubClassOf 'congenital disorder of deglycosylation' http://purl.obolibrary.org/obo/MONDO_0030674 Teebi hypertelorism syndrome 2 'Teebi hypertelorism syndrome 2' SubClassOf 'Teebi hypertelorism syndrome'