Agent Commons Collaborative Research

Hereditary disease

A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.

Identifiers
MONDO:0003847
Part of
Disease of genetic or genomic mechanism
Also known as
hereditary disease or disorder · hereditary diseases · inherited disease · inherited genetic disease · molecular disease

Subtypes

All diseases Rare only
Disease Subtypes
Hereditary neurological disease 3,109
Inborn errors of metabolism 2,049
Autosomal genetic disease 1,624
Skeletal dysplasia 839
Hereditary skin disorder 702
Hereditary skeletal muscle disorder 414
Cardiogenetic disease 405
Immunodeficiency disease 280
Hereditary neoplastic syndrome 278
Inherited kidney disorder 260
X-linked disease 252
Hereditary disorder of connective tissue 236
Ciliopathy 223
Inherited auditory system disease 220
Hereditary dementia 149
Inherited blood coagulation disorder 111
Craniosynostosis 106
Hypogonadotropic hypogonadism 87
Polydactyly 77
Inherited primary ovarian failure 72
Inherited hemoglobinopathy 62
Cataract 58
Inherited thrombocytopenia 57
Familial hemolytic anemia 52
Inherited aplastic anemia 49
Inherited bleeding disorder, platelet-type 49
Syndactyly 48
Lymphatic malformation 47
Ehlers-Danlos syndrome 44
Arthrogryposis multiplex congenita 40
Spermatogenic failure 40
Hereditary otorhinolaryngologic disease 39
RASopathy 37
Syndromic microphthalmia 35
Laminopathy 34
Distal arthrogryposis 32
Familial osteosclerosis 32
Hereditary anemia 30
Brachydactyly 29
Inherited interstitial lung disease 29
Familial long QT syndrome 25
Hereditary glaucoma 25
Inherited cutis laxa 25
Amelogenesis imperfecta 23
Lymphoproliferative syndrome 23
Isolated microphthalmia 22
Orofacial cleft 21
Anterior segment dysgenesis 20
Progeroid syndrome 20
Visceral heterotaxy 20
Islet cell adenomatosis 19
Orofaciodigital syndrome 19
Mendelian encephalopathy 18
Acrofacial dysostosis 17
Prostate cancer, hereditary 17
Severe congenital neutropenia 17
Hypotrichosis 16
Hereditary hypoparathyroidism 15
Familial colorectal cancer 14
Inflammatory bowel disease 14
Osteonecrosis of genetic origin 14
Inherited isolated nail anomaly 13
Inherited sideroblastic anemia 13
BAFopathy 12
Coffin-Siris syndrome 12
Congenital diarrhea 12
Lethal congenital contracture syndrome 12
Tooth agenesis 12
Silver-Russell syndrome 11
Central precocious puberty 11
Familial thoracic aortic aneurysm and aortic dissection 11
Hereditary hemophagocytic lymphohistiocytosis 11
Keratoconus 11
Hereditary hyperparathyroidism 10
Familial nonmedullary thyroid carcinoma 9
Familial polycythemia 9
Familial vesicoureteral reflux 9
Frontonasal dysplasia 9
Hypothyroidism, congenital, nongoitrous 9
Spondylocostal dysostosis 9
CACNA1C-related disorder 8
Fuchs' endothelial dystrophy 8
Bone marrow failure syndrome 8
Cirrhosis, familial 8
Epithelial-stromal TGFBI dystrophy 8
Hereditary hypophosphatemic rickets 8
Hereditary pulmonary alveolar proteinosis 8
Preeclampsia 8
COL4A1/A2-related disorder 7
GJB2-related disorder 7
Chronic granulomatous disease 7
Ear malformation 7
Heart-hand syndrome 7
Hereditary Wilms tumor 7
Heritable pulmonary arterial hypertension 7
Hydatidiform mole 7
Inherited obesity 7
Split hand-foot malformation 7
Synovial sarcoma 7
Adams-Oliver syndrome 6
Cornelia de Lange syndrome 6
DICER1-related tumor predisposition 6
Klippel-Feil syndrome 6
POLR3A-related disorder 6
TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations 6
Familial glucocorticoid deficiency 6
Hereditary gingival fibromatosis 6
Inherited oocyte maturation defect 6
Oromandibular-limb hypogenesis syndrome 6
CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder 5
MALT lymphoma 5
Central areolar choroidal dystrophy 5
Congenital pseudoarthrosis of the limbs 5
Familial hyperaldosteronism 5
Fibromuscular dysplasia 5
Hypospadias 5
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
Primary pigmented nodular adrenocortical disease 5
ACD-related telomere biology disorder 4
AP-4 deficiency syndrome 4
Chiari malformation 4
Houge-Janssens syndrome 4
Kleefstra syndrome 4
NR5A1-related sex development disorder 4
PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder 4
Pitt-Hopkins or Pitt-Hopkins-like syndrome 4
Y-linked disease 4
Advanced sleep phase syndrome 4
Alopecia - intellectual disability syndrome 4
Bronchiectasis 4
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 4
Classic Hodgkin lymphoma 4
Dentin dysplasia type I 4
Familial abdominal aortic aneurysm 4
Familial clubfoot with or without associated lower limb anomalies 4
Febrile seizures, familial 4
Fragile X syndrome 4
Hereditary gastric cancer 4
Humeroradial synostosis 4
Infantile liver failure 4
Multiple congenital anomalies-hypotonia-seizures syndrome 4
Multiple synostoses syndrome 4
Myopia 4
Nanophthalmia 4
Pancreatic agenesis 4
Posterior polymorphous corneal dystrophy 4
Primary hypertrophic osteoarthropathy 4
3MC syndrome 3
ACAN-related short stature spectrum 3
Axenfeld-Rieger syndrome 3
Cushing syndrome due to macronodular adrenal hyperplasia 3
FDXR-related optic atrophy mitochondrial dysfunction syndrome 3
LTBP2-related ocular dysgenesis 3
NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 3
PI4KA-related disorder 3
RNU4ATAC spectrum disorder 3
WFS1-related disorder 3
Zimmermann-Laband syndrome 3
Anodontia 3
Bone Paget disease 3
Branchiootic syndrome 3
Camptodactyly syndrome, Guadalajara 3
Congenital bilateral absence of vas deferens 3
Familial thrombocytosis 3
Fetal and neonatal alloimmune thrombocytopenia 3
Foveal hypoplasia 3
Growth hormone insensitivity syndrome with immune dysregulation 3
Hereditary narcolepsy 3
Isolated aniridia 3
Isolated congenital breast hypoplasia/aplasia 3
Isolated cryptophthalmia 3
Oculoauriculovertebral spectrum with radial defects 3
Tibial aplasia-ectrodactyly syndrome 3
AARS2-related disorder 2
Atelis syndrome 2
Bryant-Li-Bhoj neurodevelopmental syndrome 2
Burkitt lymphoma 2
CSF1R-related disorder 2
CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy 2
Carey-Fineman-Ziter syndrome 2
ELANE-related neutropenia 2
EN1-related dorsoventral syndrome 2
EPHB4-associated vascular malformation spectrum 2
Ewing sarcoma 2
FG syndrome 2
Kabuki syndrome 2
Leydig cell hypoplasia, type 1 2
Meesmann corneal dystrophy 2
Menke-Hennekam syndrome 2
NDUFB11-related disorders 2
NUS1-related disorder 2
PIK3R1-related immunodeficiency and SHORT syndrome 2
POLR1C-related disorder 2
POLR3B-related disorder 2
Phelan-McDermid syndrome 2
RNU12-related minor spliceopathy disorder 2
SYCE1-related gametogenic failure 2
THG1L-related disorder 2
TOR1AIP1-related nuclear envelopathy 2
Alveolar soft part sarcoma 2
Androgen insensitivity syndrome 2
Anemia, hypochromic microcytic with iron overload 2
Aorta coarctation 2
Arterial calcification of infancy 2
Capillary malformation-arteriovenous malformation syndrome 2
Cerebelloparenchymal disorder 2
Congenital vertical talus 2
Contractures, pterygia, and variable skeletal fusions syndrome 2
Cornea plana 2
Diencephalic-mesencephalic junction dysplasia 2
Enterocolitis 2
Erythromelalgia 2
Familial monosomy 7 syndrome 2
Familial ovarian cancer 2
Familial visceral myopathy 2
Gastrointestinal defect and immunodeficiency syndrome 2
Hereditary chronic pancreatitis 2
Horizontal gaze palsy with progressive scoliosis 2
Humero-radio-ulnar synostosis 2
Leukoencephalopathy, hereditary diffuse, with spheroids 2
Microcephaly, epilepsy, and diabetes syndrome 2
Microcephaly, growth restriction and increased sister chromatid exchange 2
Microcephaly, short stature, and impaired glucose metabolism 2
Multisystemic smooth muscle dysfunction syndrome 2
Nephrolithiasis/osteoporosis, hypophosphatemic 2
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
Otofaciocervical syndrome 2
Patella aplasia/hypoplasia 2
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 2
Pulmonary venoocclusive disease 2
Renal-hepatic-pancreatic dysplasia 2
Restrictive dermopathy 2
Sclerosteosis 2
Specific granule deficiency 2
Tetraamelia-multiple malformations syndrome 2
Van Maldergem syndrome 2
Van der Woude syndrome 2
Visceral neuropathy, familial 2
7q11.23 microduplication syndrome 1
AKT3-related overgrowth spectrum 1
BMP4-related ocular growth disorder 1
CDKL5 disorder 1
CFTR-related disorder 1
DHDDS-CDG 1
MCM9-related gametogenic failure 1
Opitz G/BBB syndrome 1
SEC61A1 deficiency 1
SMAD6-related disease 1
Stuve-Wiedemann syndrome 1
Teebi hypertelorism syndrome 1
Ververi-Brady syndrome 1
WHIM syndrome 1
Ariboflavinosis 1
Autoimmune disease, multisystem, infantile-onset 1
Autoinflammation, panniculitis, and dermatosis syndrome 1
Celiac disease 1
Central hypoventilation syndrome, congenital 1
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1
Cyanosis, transient neonatal 1
Dentinogenesis imperfecta type 2 1
Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
Distal monosomy 10p 1
Dyskinesia with orofacial involvement 1
Epilepsy, early-onset 1
Extraskeletal myxoid chondrosarcoma 1
Familial caudal dysgenesis 1
Familial melanoma 1
Hereditary breast carcinoma 1
Hereditary gallbladder disorder 1
Inherited hypertrophic pyloric stenosis 1
Macrocephaly, dysmorphic facies, and psychomotor retardation 1
Megalocornea 1
Multinodular goiter 1
Oculomaxillofacial dysostosis 1
Periodontitis, aggressive 1
Short stature with nonspecific skeletal abnormalities 1
Thyroid hormone metabolism, abnormal 1
Trichomegaly 1
Volvulus of midgut 1
17q11.2 microduplication syndrome
46,XX sex reversal 1
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
A20 haploinsufficiency
ADNP-related blepharophimosis-intellectual disability syndrome
Abruzzo-Erickson syndrome
Achard syndrome
Alazami-Yuan syndrome
Alkuraya-Kucinskas syndrome
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Armfield syndrome
Arts syndrome
Ayme-Gripp syndrome
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
BENTA disease
Bamforth-Lazarus syndrome
Baralle-Macken syndrome
Basilicata-Akhtar syndrome
Beck-Fahrner syndrome
Brachymorphism-onychodysplasia-dysphalangism syndrome
Buratti-Harel syndrome
CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
CEBALID syndrome
CHAND syndrome
CLAPO syndrome
Caroli syndrome
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
Chopra-Amiel-Gordon syndrome
Christianson syndrome
Chudley-McCullough syndrome
Cohen-Gibson syndrome
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Crane-Heise syndrome
DONSON-related microcephaly-short stature-limb abnormalities spectrum
DOORS syndrome
DeSanto-Shinawi syndrome due to WAC point mutation
EDICT syndrome
Elsahy-Waters syndrome
Emanuel syndrome
FRAXF syndrome
Floating-Harbor syndrome
Fowler syndrome
GCGR-related hyperglucagonemia
GRACILE syndrome
Gabriele de Vries syndrome
Gamstorp-Wohlfart syndrome
Goldberg-Shprintzen syndrome
Grant syndrome
Guttmacher syndrome
Hengel-Maroofian-Schols syndrome
Heyn-Sproul-Jackson syndrome
Hirschsprung disease
Hunter-Macdonald syndrome
Huppke-Brendel syndrome
ICHAD syndrome
IVIC syndrome
Imagawa-Matsumoto syndrome
Jalili syndrome
Jawad syndrome
Juberg-Hayward syndrome
KLHL7-related Bohring-Opitz-like syndrome
Karsch-Neugebauer syndrome
Kasabach-Merritt syndrome
Kaya-Barakat-Masson syndrome
Keipert syndrome
L-ferritin deficiency
Lamb-Shaffer syndrome
Lambotte syndrome
Lessel-Kreienkamp syndrome
Li-Campeau syndrome
Li-Ghorbani-Weisz-Hubshman syndrome
Liang-Wang syndrome
Liberfarb syndrome
Lisch epithelial corneal dystrophy
Lopes-Maciel-Rodan syndrome
Luscan-Lumish syndrome
MIRAGE syndrome
MOMO syndrome
MORM syndrome
MTOR-related overgrowth spectrum
Malan overgrowth syndrome
Mazabraud syndrome
Meacham syndrome
Melhem-Fahl syndrome
Moynahan syndrome
Muggenthaler-Chowdhury-Chioza syndrome
NR2F2 related multiple congenital anomalies/dysmorphic syndrome
Nance-Horan syndrome
O'Donnell-Luria-Rodan syndrome
Onychotrichodysplasia and neutropenia
PMP22-RAI1 contiguous gene duplication syndrome
Perlman syndrome
Pierre Robin syndrome-faciodigital anomaly syndrome
Potocki-Lupski syndrome
Primrose syndrome
Rabson-Mendenhall syndrome
Radio-Tartaglia syndrome
Rahman syndrome
Ramon syndrome
Rauch-Steindl syndrome
Reynolds syndrome
Robin sequence-oligodactyly syndrome
Robinow-Sorauf syndrome
Rombo syndrome
Roussy-Levy syndrome
Schnyder corneal dystrophy
Shashi-Pena syndrome
Shukla-Vernon syndrome
Sifrim-Hitz-Weiss syndrome
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
Sjogren-Larsson-like ichthyosis without CNS or eye involvement
Skraban-Deardorff syndrome
Snijders Blok-Campeau syndrome
T-cell immunodeficiency with epidermodysplasia verruciformis
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Tolchin-Le Caignec syndrome
Upington disease
Usher syndrome, type 1M
VACTERL association, X-linked, with or without hydrocephalus
Valinemia
Warsaw breakage syndrome
Wiedemann-Steiner syndrome
Wolfram syndrome 2
X-linked complicated corpus callosum dysgenesis
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Y chromosome infertility due to DAZ1 deletion
ZTTK syndrome
Ablepharon macrostomia syndrome
Absence deformity of leg-cataract syndrome
Absent radius-anogenital anomalies syndrome
Achalasia, familial esophageal
Acinar dysplasia caused by mutation in FGF10
Acinar dysplasia caused by mutation in FGFR2
Acinar dysplasia caused by mutation in TBX4
Acroosteolysis-keloid-like lesions-premature aging syndrome
Adenosine triphosphatase deficiency, anemia due to
Agnathia-otocephaly complex
Alopecia universalis
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
Alpha-thalassemia-myelodysplastic syndrome
Amyotonia congenita
Angioosteohypertrophic syndrome
Aniridia - intellectual disability syndrome
Aniridia-absent patella syndrome
Aniridia-renal agenesis-psychomotor retardation syndrome
Anonychia-onychodystrophy with brachydactyly type b and ectrodactyly
Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
Aplasia of lacrimal and salivary glands
Arteriovenous malformations of the brain
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
Atrichia with papular lesions
Aurocephalosyndactyly
Autoinflammation with episodic fever and lymphadenopathy
Autoinflammation, immune dysregulation, and eosinophilia
Autosomal dominant deafness - onychodystrophy syndrome
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Autosomal dominant wooly hair
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
Bilateral microtia-deafness-cleft palate syndrome
Bile duct cyst
Bipartite talus
Blepharophimosis - intellectual disability syndrome, SBBYS type
Blepharophimosis-impaired intellectual development syndrome
Blue color blindness
Bullous dystrophy, macular type
Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
Carboxypeptidase N deficiency
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
Cardiac, facial, and digital anomalies with developmental delay
Cardiac-urogenital syndrome
Caudal duplication
Cavernous hemangiomas of face-supraumbilical midline raphe syndrome
Celiac disease-epilepsy-cerebral calcification syndrome
Celiac trunk compression syndrome
Central centrifugal cicatricial alopecia
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
Cerebral malformation, seizures, hypertrichosis, and overlapping fingers
Chemodectoma, intraabdominal, with cutaneous angiolipomas
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Cholestasis-pigmentary retinopathy-cleft palate syndrome
Chondrodysplasia-pseudohermaphroditism syndrome
Chromosome 15q24 deletion syndrome
Chromosome 16 inversion, 0.45-Mb
Chromosome 18 pericentric inversion
Chromosome 1p32-p31 deletion syndrome
Chromosome 1p35 deletion syndrome
Chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant
Chromosome 4Q32.1-q32.2 triplication syndrome
Chronic atrial and intestinal dysrhythmia
Chronic mast cell leukemia
Cleft palate-large ears-small head syndrome
Cocoon syndrome
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Conductive deafness-malformed external ear syndrome
Congenital analbuminemia
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
Congenital contractures of the limbs and face, hypotonia, and developmental delay
Congenital enteropathy due to enteropeptidase deficiency
Congenital heart defects and skeletal malformations syndrome
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Congenital hereditary endothelial dystrophy of cornea
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
Congenital pseudoarthrosis of clavicle
Congenital short bowel syndrome, autosomal recessive
Congenital stromal corneal dystrophy
Cornea guttata with anterior polar cataracts
Corneal dystrophy, punctiform and polychromatic pre-descemet
Corneal dystrophy-perceptive deafness syndrome
Corpus callosum agenesis-abnormal genitalia syndrome
Corticosteroid-binding globulin deficiency
Corticosterone methyloxidase type 2 deficiency
Coxa vara
Craniofacial dysplasia - osteopenia syndrome
Craniofacial-deafness-hand syndrome
Craniolenticulosutural dysplasia
Craniorhiny
Craniosynostosis-intellectual disability syndrome of 51N and Gettig
De Sanctis-Cacchione syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia
Deafness-ear malformation-facial palsy syndrome
Deafness-epiphyseal dysplasia-short stature syndrome
Deafness-small bowel diverticulosis-neuropathy syndrome
Deafness-vitiligo-achalasia syndrome
Deeah syndrome
Dentinogenesis imperfecta type 3
Developmental delay, language impairment, and ocular abnormalities
Diffuse idiopathic skeletal hyperostosis
Dilution, pigmentary
Distal symphalangism
Dysmorphism-cleft palate-loose skin syndrome
Dysostosis multiplex, Ain-Naz type
Dysraphism-cleft lip/palate-limb reduction defects syndrome
Early-onset familial hypoaldosteronism
Ectopia lentis 1, isolated, autosomal dominant
Ectopia lentis 2, isolated, autosomal recessive
Ectopia lentis et pupillae
Enamel hypoplasia, cataracts, and aqueductal stenosis
Endocrine-cerebro-osteodysplasia syndrome
Epithelial recurrent erosion dystrophy
Esophagitis, eosinophilic, 1
Esophagitis, eosinophilic, 2
Estrogen resistance syndrome
Exfoliation syndrome
Exostoses-anetodermia-brachydactyly type E syndrome
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Faciothoracogenital syndrome
Familial cavitary optic disk anomaly
Familial cervical artery dissection
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Familial isolated congenital asplenia
Familial juvenile hypertrophy of the breast
Familial male-limited precocious puberty
Familial pancreatic carcinoma
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Familial spontaneous pneumothorax
Familial supernumerary nipples
Fibrodysplasia ossificans progressiva
Fibrosclerosis, multifocal
Fibrosis, neurodegeneration, and cerebral angiomatosis
Fleck corneal dystrophy
Focal dermal hypoplasia
Fused mandibular incisors
Gastric mucosal hypertrophy
Gastrointestinal stromal tumor
Gelatinous drop-like corneal dystrophy
Genitourinary and/or brain malformation syndrome
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
Global developmental delay with or without impaired intellectual development
Global developmental delay with speech and behavioral abnormalities
Glomuvenous malformation
Grange syndrome
Growth delay due to insulin-like growth factor I resistance
Growth delay due to insulin-like growth factor type 1 deficiency
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Hemifacial myohyperplasia
Hepatic adenomas, familial
Hepatic veno-occlusive disease-immunodeficiency syndrome
Hereditary arterial and articular multiple calcification syndrome
Hereditary fallopian tube carcinoma
Hereditary hyperferritinemia with congenital cataracts
Hereditary hypotrichosis with recurrent skin vesicles
Hereditary neuro-ophthalmological disease
Hereditary neuroendocrine tumor of small intestine
Hereditary neutrophilia
Hereditary sensory and autonomic neuropathy with deafness and global delay
High myopia-sensorineural deafness syndrome
Histiocytoma, Angiomatoid fibrous
Humerus trochlea aplasia
Hyperbiliverdinemia
Hypercalciuria, absorptive, 2
Hyperostosis cranialis interna
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Hypoglycemia, leucine-induced
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Hypoparathyroidism-deafness-renal disease syndrome
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Hypotonia, ataxia, and delayed development syndrome
Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
Ichthyosis prematurity syndrome
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Immunodeficiency with defective T-cell response to interleukin 1
Immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein
Immunodysregulation with variable immunodeficiency and autoimmunity
Imperforate oropharynx-costo vetebral anomalies syndrome
Inflammatory bowel disease, immunodeficiency, and encephalopathy
Inosine triphosphatase deficiency
Insulin-resistance syndrome type A
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Intellectual developmental disorder with autistic features and language delay, with or without seizures
Intellectual developmental disorder with cardiac defects and dysmorphic facies
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
Intellectual developmental disorder with impaired language and dysmorphic facies
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
Intellectual developmental disorder with or without peripheral neuropathy
Intellectual developmental disorder with seizures and language delay
Intellectual developmental disorder with short stature and behavioral abnormalities
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
Intellectual disability, anterior maxillary protrusion, and strabismus
Intellectual disability-brachydactyly-Pierre Robin syndrome
Intellectual disability-strabismus syndrome
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
Ischio-vertebral syndrome
Isolated neonatal sclerosing cholangitis
Isolated right ventricular hypoplasia
Juvenile arthritis due to defect in LACC1
Keratitis fugax hereditaria
Lethal faciocardiomelic dysplasia
Lethal polymalformative syndrome, Boissel type
Lethal recessive chondrodysplasia
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
Limb transversal defect-cardiac anomaly syndrome
Lymphedema-posterior choanal atresia syndrome
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
Macrocephaly-developmental delay syndrome
Mammary-digital-nail syndrome
Mandibulofacial dysostosis with alopecia
Maxillofacial dysostosis
Medium chain 3-ketoacyl-Coa thiolase deficiency
Megalodactyly
Menstrual cycle-dependent periodic fever
Metachondromatosis
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Metaphyseal undermodeling, spondylar dysplasia, and overgrowth
Microcephaly, short stature, and limb abnormalities
Microcephaly-brachydactyly-kyphoscoliosis syndrome
Microcephaly-capillary malformation syndrome
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Microcephaly-micromelia syndrome
Microcephaly-thin corpus callosum-intellectual disability syndrome
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1
Microphthalmia, isolated, with coloboma 9
Microspherophakia-metaphyseal dysplasia syndrome
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Mullerian aplasia and hyperandrogenism
Multiple exostoses with spastic tetraparesis
Multiple fibroadenoma of the breast
Myelodysplastic syndrome associated with isolated del(5q)
Myeloperoxidase deficiency
Nephropathy - deafness - hyperparathyroidism syndrome
Neurodevelopmental, jaw, eye, and digital syndrome
Neuroectodermal melanolysosomal disease
Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
Neurooculocardiogenitourinary syndrome
Nonimmune chronic idiopathic neutropenia of adults
Obesity, hyperphagia, and developmental delay
Oculocerebral hypopigmentation syndrome of Preus
Oculocerebrofacial syndrome, Kaufman type
Oculogastrointestinal-neurodevelopmental syndrome
Oculorenocerebellar syndrome
Oculotrichoanal syndrome
Odontoid hypoplasia
Oligodontia-cancer predisposition syndrome
Omphalocele, X-linked
Omphalocele, autosomal
Ophthalmomandibulomelic dysplasia
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
Osteootohepatoenteric syndrome
Osteoporosis-oculocutaneous hypopigmentation syndrome
Otoonychoperoneal syndrome
Ovarian hyperstimulation syndrome
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Pancreatic lymphoma, familial
Parasomnia, sleep bruxism type
Parathyroid gland carcinoma
Patent ductus venosus
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Pellagra-like syndrome
Periodic fever, immunodeficiency, and thrombocytopenia syndrome
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Pernicious anemia
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction
Pigment dispersion syndrome
Pigmented purpuric eruption
Pleomorphic adenoma
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
Polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Postaxial tetramelic oligodactyly
Primary failure of tooth eruption
Primary intraosseous venous malformation
Progressive deafness with stapes fixation
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Progressive non-infectious anterior vertebral fusion
Properdin deficiency, X-linked
Protein-losing enteropathy
Pseudohyperaldosteronism type 2
Pseudoxanthoma elasticum, forme fruste
Pulmonary alveolar microlithiasis
Pulmonary atresia with ventricular septal defect
Pulmonary atresia-intact ventricular septum syndrome
Pulmonic stenosis
Pyropoikilocytosis, hereditary
Radial deficiency-tibial hypoplasia syndrome
Radio-renal syndrome
Recombinant 8 syndrome
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Red-green color blindness
Reticuloendotheliosis, X-linked
Retinal dystrophy with or without macular staphyloma
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Rhabdomyosarcoma, embryonal, 2
Ring dermoid of cornea
Serpinopathy
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Short stature due to GHSR deficiency
Short stature due to primary acid-labile subunit deficiency
Short stature, Brussels type
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
Shoulder and thorax deformity-congenital heart disease syndrome
Snijders blok-fisher syndrome
Spastic diplegia and intellectual disability
Spastic paraparesis-cataracts-speech delay syndrome
Spastic paraparesis-deafness syndrome
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Splenogonadal fusion-limb defects-micrognathia syndrome
Split-foot malformation-mesoaxial polydactyly syndrome
Spondylocostal dysostosis-anal and genitourinary malformations syndrome
Spondylocostal dysostosis-hypospadias-intellectual disability syndrome
Spondylometaphyseal dysplasia with corneal dystrophy
Structural heart defects and renal anomalies syndrome
Subaortic stenosis, membranous
Sudden cardiac failure, infantile
Sudden infant death-dysgenesis of the testes syndrome
Symphalangism with multiple anomalies of hands and feet
Syncope, familial vasovagal
Syndromic multisystem autoimmune disease due to ITCH deficiency
Syngnathia multiple anomalies
Syngnathia-cleft palate syndrome
Tall stature-intellectual disability-renal anomalies syndrome
Temtamy syndrome
Testicular anomalies with or without congenital heart disease
Tetramelic monodactyly
Tetrasomy 18p
Thalamic degeneration, symmetric infantile
Thickened earlobes-conductive deafness syndrome
Thymoma, familial
Thyroid Hurthle cell carcinoma
Tooth ankylosis
Transient infantile hypertriglyceridemia and hepatosteatosis
Triphalangeal thumb-polysyndactyly syndrome
Turnpenny-fry syndrome
Ulna hypoplasia-intellectual disability syndrome
Ulnar hypoplasia-split foot syndrome
Uncombable hair syndrome 1
Uncombable hair syndrome 2
Uncombable hair syndrome 3
Uveal coloboma-cleft lip and palate-intellectual disability
Vacuolar Neuromyopathy
Vascular hyalinosis
Ventriculomegaly-cystic kidney disease
Visceral leishmaniasis
Vitamin D-dependent rickets, type 3
Warburg-cinotti syndrome
Wooly hair, autosomal recessive 3
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

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Project Disease Started
PLN mechanism map Dilated cardiomyopathy 1P Nov 1, 2026