H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
     H02525  Disorders of innate immunity
     H00093  Combined immunodeficiency
     H00094  Immunodeficiency associated with DNA repair defects
     H02014  Ataxia-telangiectasia-like syndrome
     H02031  Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
     H00290  Aicardi-Goutieres syndrome
     H02484  X-linked reticulate pigmentary disorder with systemic manifestations
     H00658  X-linked syndromic intellectual developmental disorder
     H02342  Frontotemporal dementia and amyotrophic lateral sclerosis
     H00264  Charcot-Marie-Tooth disease
     H01118  Progressive external ophthalmoplegia
     H00604  Deafness, autosomal dominant
     H00564  Primary ciliary dyskinesia
     H02366  Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
     H02840  Morimoto-Ryu-Malicdan neuromuscular syndrome
     H00992  Seckel syndrome
     H01993  Baller-Gerold syndrome
     H01889  Meier-Gorlin syndrome
     H01734  Rothmund-Thomson syndrome
     H00965  RAPADILINO syndrome
     H02369  IMAGE-I syndrome
     H02370  FILS syndrome
     H02625  Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
     H01623  MDPL syndrome

     H00038  Melanoma
     H02624  Tumor predisposition syndrome
     H01132  Aplastic anemia
     H00507  Dyskeratosis congenita
     H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
     H02580  Hereditary sensory neuropathy with spastic paraplegia
     H02251  Cerebroretinal microangiopathy with calcifications and cysts
     H02843  Brain malformations and seizures by impaired function of TRiC

     H00238  Fanconi anemia
     H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
     H00091  T-B+Severe combined immunodeficiency
     H00403  Disorders of nucleotide excision repair
     H02014  Ataxia-telangiectasia-like syndrome
     H02571  Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
     H00866  Trichothiodystrophy
     H02131  UV-sensitive syndrome
     H01428  Xeroderma pigmentosum
     H00076  Cockayne syndrome
     H02570  Cerebro-oculo-facio-skeletal syndrome
     H02560  White-Kernohan syndrome

     H00005  Chronic lymphocytic leukemia
     H02418  Non-Hodgkin lymphoma
     H00019  Pancreatic cancer
     H00038  Melanoma
     H00031  Breast cancer
     H02531  Familial breast-ovarian cancer
     H01132  Aplastic anemia
     H00238  Fanconi anemia
     H00507  Dyskeratosis congenita
     H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
     H00091  T-B+Severe combined immunodeficiency
     H00092  T-B-Severe combined immunodeficiency
     H01244  T+B+Severe combined immunodeficiencies (SCIDs)
     H02554  Omenn syndrome
     H00924  Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
     H02015  LIG4 syndrome
     H00064  Ataxia telangiectasia
     H00094  Immunodeficiency associated with DNA repair defects
     H00296  Defects in RecQ helicases
     H00962  RIDDLE syndrome
     H01344  Nijmegen breakage syndrome
     H01346  Bloom syndrome
     H02014  Ataxia-telangiectasia-like syndrome
     H00768  Autosomal recessive intellectual developmental disorder
     H01395  Autosomal recessive progressive external ophthalmoplegia
     H00604  Deafness, autosomal dominant
     H00627  Premature ovarian failure
     H02492  Microcephaly, growth restriction, and increased sister chromatid exchange
     H00992  Seckel syndrome
     H01889  Meier-Gorlin syndrome
     H01733  Werner syndrome
     H02576  Familial cutaneous telangiectasia and cancer syndrome
     H02578  Short stature, microcephaly, and endocrine dysfunction
     H02639  Atelis syndrome
     H01623  MDPL syndrome

     H00019  Pancreatic cancer
     H00031  Breast cancer
     H02531  Familial breast-ovarian cancer
     H00238  Fanconi anemia
     H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
     H00627  Premature ovarian failure
     H02577  Karyomegalic interstitial nephritis
     H00599  Ovarian dysgenesis
     H00992  Seckel syndrome
     H01428  Xeroderma pigmentosum
     H00076  Cockayne syndrome
     H02570  Cerebro-oculo-facio-skeletal syndrome
     H02576  Familial cutaneous telangiectasia and cancer syndrome

     H00042  Glioma
     H00004  Chronic myeloid leukemia
     H02541  Juvenile myelomonocytic leukemia
     H00003  Acute myeloid leukemia
     H00018  Gastric cancer
     H00020  Colorectal cancer
     H00019  Pancreatic cancer
     H00048  Hepatocellular carcinoma
     H00014  Non-small cell lung cancer
     H00013  Small cell lung cancer
     H00038  Melanoma
     H00039  Basal cell carcinoma
     H00031  Breast cancer
     H00026  Endometrial cancer
     H00022  Bladder cancer
     H00032  Thyroid cancer
     H01592  Medullary thyroid cancer
     H01510  Malignant paraganglioma
     H01725  Primary immunodeficiency disease
     H00255  Hypogonadotropic hypogonadism
     H01250  Hereditary gingival fibromatosis
     H02188  Watson syndrome
     H02043  Capillary malformation-arteriovenous malformation
     H00910  Hirschsprung disease
     H00471  Split-hand/foot malformation
     H02631  Melorheostosis
     H02157  Short-rib thoracic dysplasia
     H01756  Pfeiffer syndrome
     H01754  Crouzon syndrome
     H01755  Apert syndrome
     H01753  Antley-Bixler syndrome
     H01988  Jackson-Weiss syndrome
     H01989  Beare-Stevenson syndrome
     H01990  Muenke syndrome
     H01991  Saethre-Chotzen syndrome
     H00532  Parkes Weber syndrome
     H01986  Legius syndrome
     H02189  Neurofibromatosis-Noonan syndrome
     H01437  Neurofibromatosis type 1
     H01738  Noonan syndrome
     H00523  Noonan syndrome and related disorders
     H00574  Coffin-Lowry syndrome
     H01745  Cardiofaciocutaneous syndrome
     H01747  Costello syndrome
     H01984  Leopard syndrome
     H02190  CBL syndrome
     H02191  Noonan-like syndrome with loose anagen hair

     H00039  Basal cell carcinoma
     H00267  Holoprosencephaly
     H00263  Acrocallosal syndrome
     H01835  Neuronal migration disorder
     H01027  Microphthalmia
     H00482  Brachydactyly
     H01852  Postaxial polydactyly
     H02332  Preaxial polydactyly
     H00530  Joubert syndrome and related disorders
     H00675  Acrocapitofemoral dysplasia
     H02158  Weyers acrofacial dysostosis
     H02161  Greig cephalopolysyndactyly syndrome
     H00503  Ellis-van Creveld syndrome
     H00895  Basal cell nevus syndrome
     H00502  Pallister-Hall syndrome
     H00886  Donnai-Barrow syndrome
     H01265  Hydrolethalus syndrome
     H02479  Nivelon-Nivelon-Mabille syndrome

     H00342  Tuberculosis
     H01563  HIV infection
     H00842  Epidermodysplasia verruciformis
     H00361  Malaria
     H02541  Juvenile myelomonocytic leukemia
     H00017  Esophageal cancer
     H00020  Colorectal cancer
     H00039  Basal cell carcinoma
     H00032  Thyroid cancer
     H00222  Congenital fibrinogen deficiency
     H01235  Bleeding disorder platelet-type
     H00226  Glanzmann thrombasthenia
     H00233  MYH9-related disease
     H00093  Combined immunodeficiency
     H01969  X-linked lymphoproliferative syndrome
     H02036  Combined pituitary hormone deficiency
     H00624  Progressive familial intrahepatic cholestasis
     H01185  Cerebral amyloid angiopathy
     H00845  Familial amyloidosis
     H00480  X-linked intellectual developmental disorder
     H00768  Autosomal recessive intellectual developmental disorder
     H00773  Autosomal dominant intellectual developmental disorder
     H02111  Autism
     H01882  Asperger syndrome
     H02990  Neurodevelopmental disorder with central and peripheral motor dysfunction
     H00864  Trichotillomania
     H01574  Familial idiopathic basal ganglia calcification
     H00749  Episodic ataxias
     H00063  Spinocerebellar ataxia (SCA)
     H01891  Autosomal recessive spinocerebellar ataxias
     H00862  Tourette syndrome
     H02789  Familial myoclonus
     H01287  Congenital mirror movements
     H00056  Alzheimer disease
     H02980  Cognitive impairment with or without cerebellar ataxia
     H02696  Early-onset epilepsy
     H00806  Benign familial neonatal seizure
     H00606  Early infantile epileptic encephalopathy
     H02362  Benign familial infantile seizure
     H00266  Hereditary spastic paraplegia
     H02178  MASA syndrome
     H00856  Distal hereditary motor neuropathies
     H01436  Guillain-Barre syndrome
     H02357  Congenital hypomyelinating neuropathy
     H00264  Charcot-Marie-Tooth disease
     H01155  Roussy-Levy syndrome
     H01296  Hereditary neuropathy with liability to pressure palsies
     H02359  Dejerine-Sottas disease
     H02817  Peripheral neuropathy, myopathy, hoarseness, and hearing loss
     H01777  Schwartz-Jampel syndrome
     H01810  Congenital myopathy
     H00594  Distal myopathy
     H02989  Developmental delay with or without epilepsy
     H02450  Horizontal gaze palsy with progressive scoliosis
     H00776  Congenital motor nystagmus (CMN)
     H00604  Deafness, autosomal dominant
     H00605  Deafness, autosomal recessive
     H00294  Dilated cardiomyopathy
     H00292  Hypertrophic cardiomyopathy
     H00720  Long QT syndrome
     H01935  Familial hypercholanemia
     H00630  Rheumatoid arthritis
     H01657  Nephrotic syndrome
     H01037  Vesicoureteral reflux
     H01477  Congenital short bowel syndrome
     H02458  Hydrocephalus due to congenital stenosis of aqueduct of Sylvius
     H00516  Cleft lip and/or cleft palate
     H00554  Aortic valve disease
     H02043  Capillary malformation-arteriovenous malformation
     H02811  Aplasia or hypoplasia of the breasts and/or nipples
     H01921  MICPCH syndrome
     H02132  Microcephaly syndrome
     H01034  L1 syndrome
     H02155  Dyssegmental dysplasia
     H01828  Opsismodysplasia
     H02154  Omodysplasia
     H01008  C syndrome
     H00865  Lethal congenital contractural syndrome
     H02456  Ectodermal dysplasia
     H00647  Ectodermal dysplasia-syndactyly syndrome
     H01215  Simpson-Golabi-Behmel syndrome
     H01738  Noonan syndrome
     H00756  Pitt-Hopkins syndrome
     H00894  FG syndrome
     H01869  Megacystis microcolon intestinal hypoperistalsis syndrome
     H01984  Leopard syndrome
     H02074  Knobloch syndrome
     H02667  Takenouchi-Kosaki syndrome
     H02981  Neurooculorenal syndrome
     H02982  Congenital heart defects and skeletal malformations syndrome
     H02326  Keipert syndrome
     H02355  Deafness and myopia
     H02397  Neurodevelopmental disorder with movement abnormalities or hypotonia
     H02463  Syndromic intellectual developmental disorder
     H02911  Paul-Chao neurodevelopmental syndrome
     H02988  Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
     H03077  Developmental delay, impaired speech, and behavioral abnormalities
     H00626  Focal segmental glomerulosclerosis
     H00099  Leukocyte adhesion deficiency
     H01301  Hemorrhagic destruction of the brain, subependymal calcification, and cataracts

     H01605  Myelofibrosis
     H00012  Polycythemia vera
     H00003  Acute myeloid leukemia
     H02664  Joint contracture, osteochondromas, and B-cell lymphoma
     H00232  Hereditary stomatocytosis
     H02658  X-linked congenital hemolytic anemia
     H00236  Congenital polycythemia
     H00223  Inherited thrombophilia
     H01235  Bleeding disorder platelet-type
     H01108  CD36 deficiency
     H00226  Glanzmann thrombasthenia
     H01162  Scott syndrome
     H01612  Essential thrombocythemia
     H00102  Classic complement pathway component defects
     H02467  Neonatal inflammatory skin and bowel disease
     H00084  Graft-versus-host disease
     H02669  Inflammatory bowel disease, immunodeficiency, and encephalopathy
     H01267  Familial hyperinsulinemic hypoglycemia
     H00186  Hyperargininemia
     H02086  Mitochondrial complex III deficiency
     H01248  Monocarboxylate transporter 1 deficiency
     H00148  Lysosomal acid lipase deficiency
     H00836  GLUT1 deficiency syndrome
     H00833  Neurodegeneration with brain iron accumulation
     H00159  Tangier disease
     H00930  Hypoalphalipoproteinemia
     H00057  Parkinson disease
     H00831  Primary dystonia
     H01204  Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ)
     H00056  Alzheimer disease
     H00679  Hypomyelinating leukodystrophy
     H00808  Idiopathic generalized epilepsies
     H00593  Limb-girdle muscular dystrophy
     H01810  Congenital myopathy
     H02321  Early-onset myopathy, areflexia, respiratory distress, and dysphagia
     H01965  Miyoshi muscular dystrophy
     H00527  Retinitis pigmentosa
     H00821  Age-related macular degeneration
     H00604  Deafness, autosomal dominant
     H02339  Auditory neuropathy
     H01742  Coronary artery disease
     H00079  Asthma
     H01191  Asthma with nasal polyps and aspirin intolerance
     H00218  Cystic fibrosis
     H00715  Darier disease
     H00755  Acrokeratosis verruciformis
     H02665  Reticulate acropigmentation of Kitamura
     H00750  Keratosis pilaris atrophicans
     H00630  Rheumatoid arthritis
     H01897  Oocyte/zygote/embryo maturation arrest
     H02559  Microvascular complications of diabetes
     H00434  Camurati-Engelmann disease
     H00498  Gnathodiaphyseal dysplasia
     H01018  Metachondromatosis
     H02294  Tatton-Brown-Rahman syndrome

     H02536  Infection-induced acute encephalopathy
     H02610  Head and neck squamous cell carcinoma
     H00827  Brooke-Spiegler syndrome
     H00828  Familial cylindromatosis
     H00829  Multiple familial trichoepithelioma
     H02525  Disorders of innate immunity
     H02620  Autoinflammation with episodic fever and lymphadenopathy
     H01725  Primary immunodeficiency disease
     H00108  Autoimmune lymphoproliferative syndromes
     H01969  X-linked lymphoproliferative syndrome
     H00912  Tumor necrosis factor receptor-associated periodic syndrome
     H01490  Multiple sclerosis
     H02342  Frontotemporal dementia and amyotrophic lateral sclerosis
     H00821  Age-related macular degeneration

     H01025  Familial adenomatous polyposis
     H00917  Congenital dyserythropoietic anemia
     H00233  MYH9-related disease
     H01740  Macrothrombocytopenia
     H00255  Hypogonadotropic hypogonadism
     H00624  Progressive familial intrahepatic cholestasis
     H00768  Autosomal recessive intellectual developmental disorder
     H00773  Autosomal dominant intellectual developmental disorder
     H00077  Progressive supranuclear palsy
     H00879  Perry syndrome
     H00831  Primary dystonia
     H01255  Juvenile-onset dystonia
     H02819  Neonatal intractable myoclonus
     H01287  Congenital mirror movements
     H00679  Hypomyelinating leukodystrophy
     H00606  Early infantile epileptic encephalopathy
     H00266  Hereditary spastic paraplegia
     H01351  Spastic ataxia
     H02114  Spastic paraplegia, optic atrophy, and neuropathy
     H00058  Amyotrophic lateral sclerosis (ALS)
     H02342  Frontotemporal dementia and amyotrophic lateral sclerosis
     H00455  Spinal muscular atrophy
     H00856  Distal hereditary motor neuropathies
     H02594  Congenital facial palsy with ptosis and velopharyngeal dysfunction
     H00264  Charcot-Marie-Tooth disease
     H00265  Hereditary sensory and autonomic neuropathy
     H01259  Giant axonal neuropathy
     H01810  Congenital myopathy
     H01097  Spastic quadriplegic cerebral palsy
     H00789  Keratoconus
     H01768  Central areolar choroidal dystrophy
     H00527  Retinitis pigmentosa
     H00814  Vitelliform macular dystrophy
     H00837  Leber congenital amaurosis
     H01890  Pattern dystrophies of the retinal pigment epithelium
     H02513  Oculopharyngodistal myopathy
     H00838  Congenital fibrosis of the extraocular muscles
     H02450  Horizontal gaze palsy with progressive scoliosis
     H00604  Deafness, autosomal dominant
     H00605  Deafness, autosomal recessive
     H01633  High blood pressure
     H02022  Griscelli syndrome
     H00584  Epidermolysis bullosa simplex
     H00627  Premature ovarian failure
     H01897  Oocyte/zygote/embryo maturation arrest
     H01174  Congenital diarrhea
     H00269  Primary microcephaly
     H01881  Complex cortical dysplasia with other brain malformations
     H00270  Periventricular nodular heterotopia
     H01870  Microhydranencephaly
     H02716  Becker nevus syndrome
     H00897  Pontocerebellar hypoplasia
     H00268  Lissencephaly
     H02157  Short-rib thoracic dysplasia
     H02873  Kyphomelic dysplasia
     H00458  Syndromic craniosynostoses
     H02023  Baraitser-Winter syndrome
     H02663  Braddock-Carey syndrome
     H00465  Fragile X syndrome
     H01731  Fragile X tremor/ataxia syndrome
     H02688  Dworschak-Punetha neurodevelopmental syndrome
     H02857  Neurodevelopmental disorder with microcephaly and structural brain anomalies
     H02862  Neurodevelopmental disorder with or without variable brain abnormalities
     H02863  Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
     H02864  Neurodevelopmental disorder with or without autism or seizures
     H03026  Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
     H03027  Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
     H03028  Intellectual development disorder with seizures and dysmorphic facies
     H03077  Developmental delay, impaired speech, and behavioral abnormalities
     H01579  Congenital symmetric circumferential skin creases

     H00365  Herpes simplex virus infection
     H00041  Kaposi sarcoma
     H01434  Atypical hemolytic uremic syndrome
     H00104  Alternative complement pathway component defects
     H00102  Classic complement pathway component defects
     H00103  Late complement pathway defects
     H00105  Mannose-binding lectin pathway component defects
     H00106  Complement regulatory protein defects
     H02108  Basal laminar drusen
     H00821  Age-related macular degeneration
     H02240  Ehlers-Danlos syndrome periodontal type
     H01887  3MC syndrome
     H02579  C3 glomerulopathy
     H02398  COVID-19

     H00299  Shigellosis
     H00278  Enteropathogenic Escherichia coli (EPEC) infection
     H00277  Enterohemorrhagic Escherichia coli (EHEC) infection
     H00298  Yersiniosis
     H00365  Herpes simplex virus infection
     H00342  Tuberculosis
     H00344  Leprosy
     H00297  Plague
     H00311  Legionellosis
     H00317  Melioidosis
     H01563  HIV infection
     H02536  Infection-induced acute encephalopathy
     H00398  Influenza
     H00394  Measles
     H00008  Burkitt lymphoma
     H00007  Hodgkin lymphoma
     H00041  Kaposi sarcoma
     H00054  Nasopharyngeal cancer
     H00048  Hepatocellular carcinoma
     H00030  Cervical cancer
     H00096  Defects of toll-like receptor signaling
     H00080  Systemic lupus erythematosus
     H00821  Age-related macular degeneration
     H01227  Inflammatory bowel disease (IBD)
     H02398  COVID-19

     H01102  Pituitary adenomas
     H01431  Cushing syndrome
     H00260  Pigmented micronodular adrenocortical disease
     H02049  Bilateral macronodular adrenal hyperplasia
     H01702  Glucocorticoid resistance syndrome
     H00602  Glucocorticoid-remediable aldosteronism (GRA)
     H00256  Familial glucocorticoid deficiency
     H02316  Adrenal insufficiency, NR5A1 related
     H01772  Adrenal hypoplasia, congenital