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 3,404
Inborn errors of metabolism 2,054
Autosomal genetic disease 1,656
Skeletal dysplasia 855
Hereditary skin disorder 727
Cardiogenetic disease 431
Hereditary skeletal muscle disorder 414
Immunodeficiency disease 332
Hereditary neoplastic syndrome 279
Inherited kidney disorder 270
X-linked disease 268
Hereditary disorder of connective tissue 239
Ciliopathy 223
Inherited auditory system disease 223
Hereditary dementia 149
Spermatogenic failure 113
Inherited blood coagulation disorder 111
Craniosynostosis 106
Hypogonadotropic hypogonadism 87
Cataract 81
Polydactyly 78
Inflammatory bowel disease 72
Inherited primary ovarian failure 72
Inherited hemoglobinopathy 62
Inherited thrombocytopenia 57
Familial hemolytic anemia 52
Inherited aplastic anemia 49
Inherited bleeding disorder, platelet-type 49
Syndactyly 49
Lymphatic malformation 47
Ehlers-Danlos syndrome 44
Arthrogryposis multiplex congenita 40
Hereditary otorhinolaryngologic disease 39
RASopathy 37
Brachydactyly 36
Syndromic microphthalmia 35
Laminopathy 34
Distal arthrogryposis 32
Familial osteosclerosis 32
Orofacial cleft 31
Hereditary anemia 30
Myopia 30
Inherited interstitial lung disease 29
Familial long QT syndrome 25
Hereditary glaucoma 25
Inherited cutis laxa 25
Inherited oocyte maturation defect 24
Isolated microphthalmia 24
Amelogenesis imperfecta 23
Lymphoproliferative syndrome 23
Mendelian encephalopathy 21
Hypotrichosis 21
Anterior segment dysgenesis 20
Congenital diarrhea 20
Progeroid syndrome 20
Visceral heterotaxy 20
Islet cell adenomatosis 19
Orofaciodigital syndrome 19
Severe congenital neutropenia 18
Acrofacial dysostosis 17
Prostate cancer, hereditary 17
BAFopathy 15
Hereditary hypoparathyroidism 15
Familial colorectal cancer 14
Febrile seizures, familial 14
Osteonecrosis of genetic origin 14
Inherited isolated nail anomaly 13
Inherited sideroblastic anemia 13
Coffin-Siris syndrome 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
COL4A1/A2-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
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
FG syndrome 6
Klippel-Feil syndrome 6
POLR3A-related disorder 6
TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations 6
Familial glucocorticoid deficiency 6
Foveal hypoplasia 6
Hereditary gingival fibromatosis 6
Inherited hypertrophic pyloric stenosis 6
Oromandibular-limb hypogenesis syndrome 6
CRYAB-related myofibrillar myopathy-cataract-cardiomyopathy spectrum disorder 5
MALT lymphoma 5
Bone Paget disease 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
LTBP2-related ocular dysgenesis 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
Tessadori-Van-Haaften neurodevelopmental syndrome 4
Y-linked disease 4
Advanced sleep phase syndrome 4
Alopecia - intellectual disability syndrome 4
Autoimmune disease, multisystem, infantile-onset 4
Bronchiectasis 4
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 4
Classic Hodgkin lymphoma 4
Dentin dysplasia type I 4
Developmental dysplasia of the hip 4
Familial abdominal aortic aneurysm 4
Familial clubfoot with or without associated lower limb anomalies 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
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
NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 3
PI4KA-related disorder 3
RNU4ATAC spectrum disorder 3
SMAD6-related disease 3
TOR1AIP1-related nuclear envelopathy 3
WFS1-related disorder 3
Zimmermann-Laband syndrome 3
Anodontia 3
Branchiootic syndrome 3
Camptodactyly syndrome, Guadalajara 3
Central hypoventilation syndrome, congenital 3
Congenital bilateral absence of vas deferens 3
Enterocolitis 3
Epilepsy, early-onset 3
Familial thrombocytosis 3
Fetal and neonatal alloimmune thrombocytopenia 3
Growth hormone insensitivity syndrome with immune dysregulation 3
Hereditary gallbladder disorder 3
Hereditary narcolepsy 3
Intervertebral disk degenerative disorder 3
Isolated aniridia 3
Isolated congenital breast hypoplasia/aplasia 3
Isolated cryptophthalmia 3
Multinodular goiter 3
Oculoauriculovertebral spectrum with radial defects 3
Thyroid hormone metabolism, abnormal 3
Tibial aplasia-ectrodactyly syndrome 3
Visceral neuropathy, familial 3
AARS2-related disorder 2
Atelis syndrome 2
Braddock-Carey 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
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
SEC61A1 deficiency 2
SYCE1-related gametogenic failure 2
Stuve-Wiedemann syndrome 2
THG1L-related disorder 2
Teebi hypertelorism syndrome 2
Ververi-Brady syndrome 2
WHIM syndrome 2
X inactivation, familial skewed 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
Autoinflammation, panniculitis, and dermatosis syndrome 2
Capillary malformation-arteriovenous malformation syndrome 2
Cardiac valvular defect 2
Cardioacrofacial dysplasia 2
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2
Cerebelloparenchymal disorder 2
Cone-rod dystrophy and hearing loss 2
Congenital vertical talus 2
Contractures, pterygia, and variable skeletal fusions syndrome 2
Cornea plana 2
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2
Developmental delay with short stature, dysmorphic facial features, and sparse hair 2
Diencephalic-mesencephalic junction dysplasia 2
Dyskinesia with orofacial involvement 2
Erythromelalgia 2
Familial monosomy 7 syndrome 2
Familial ovarian cancer 2
Familial visceral myopathy 2
Gastrointestinal defect and immunodeficiency syndrome 2
Hematuria, benign familial 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
Periodontitis, aggressive 2
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 2
Portal hypertension, noncirrhotic 2
Pulmonary venoocclusive disease 2
Renal-hepatic-pancreatic dysplasia 2
Restrictive dermopathy 2
Sclerosteosis 2
Short stature with nonspecific skeletal abnormalities 2
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
Specific granule deficiency 2
Tetraamelia-multiple malformations syndrome 2
Van Maldergem syndrome 2
Van der Woude syndrome 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
Fanconi-like syndrome 1
MCM9-related gametogenic failure 1
Opitz G/BBB syndrome 1
Ariboflavinosis 1
Bladder diverticulum 1
Celiac disease 1
Cryptorchidism 1
Cyanosis, transient neonatal 1
Dentinogenesis imperfecta type 2 1
Distal monosomy 10p 1
Extraskeletal myxoid chondrosarcoma 1
Familial caudal dysgenesis 1
Familial melanoma 1
Gastroesophageal reflux disease 1
Hereditary breast carcinoma 1
Jaundice, familial obstructive, of infancy 1
Macrocephaly, dysmorphic facies, and psychomotor retardation 1
Megalocornea 1
Oculomaxillofacial dysostosis 1
Spondylolisthesis 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
46,xx sex reversal 5
5-hydroxytryptamine oxygenase regulator
6-phosphogluconolactonase deficiency
A20 haploinsufficiency
ACCES syndrome
ADNP-related blepharophimosis-intellectual disability syndrome
Abruzzo-Erickson syndrome
Achard syndrome
Achoo syndrome
Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
Alazami-Yuan syndrome
Alfadhel syndrome
Alkuraya-Kucinskas syndrome
Amobarbital, deficient N-hydroxylation of
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Armfield syndrome
Arts syndrome
Athrombia, essential
Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
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
Birbeck granule deficiency
Boudin-Mortier syndrome
Bowen syndrome of multiple malformations
Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay
Brachymetatarsus 4
Brachymorphism-onychodysplasia-dysphalangism syndrome
Buratti-Harel syndrome
CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
CEBALID syndrome
CGF1
CHAND syndrome
CLAPO syndrome
COPD, severe early onset
Camptosynpolydactyly, complex
Car factor deficiency
Carabelli anomaly of maxillary molar teeth
Cardioneuromyopathy with hyaline masses and nemaline rods
Caroli syndrome
Caronte
Catifa syndrome
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita
Chitayat syndrome
Chondronectin
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
Cree intellectual disability syndrome
DEGCAGS syndrome
DNA, low-repetitive sequences of
DNA, satellite, 3
DONSON-related microcephaly-short stature-limb abnormalities spectrum
DOORS syndrome
Darwinian tubercle of pinna
Dauwerse-Peters syndrome
DeSanto-Shinawi syndrome due to WAC point mutation
Devriendt syndrome
Diamond-Blackfan anemia-like
Diets-Jongmans syndrome
Dohle bodies and leukemia
Dursun syndrome
Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin
EDICT syndrome
Elsahy-Waters syndrome
Emanuel syndrome
Eosinophilopenia
FICUS syndrome
FRAXD syndrome
FRAXF syndrome
Faundes-Banka syndrome
Fliedner-Zweier syndrome
Floating-Harbor syndrome
Fowler syndrome
Fraser-like syndrome
Freesia Flowers, inability to smell
Friedreich ataxia and congenital glaucoma
Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness
GCGR-related hyperglucagonemia
GOMBO syndrome
GRACILE syndrome
Gabriele de Vries syndrome
Gamstorp-Wohlfart syndrome
Giacheti syndrome
Glucoglycinuria
Goldberg-Shprintzen syndrome
Grant syndrome
Guillouet-Gordon syndrome
Guttmacher syndrome
Halothane hepatitis
Hengel-Maroofian-Schols syndrome
Heyn-Sproul-Jackson syndrome
Hhhh syndrome
Hirschsprung disease
Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly
Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect
Hirschsprung disease, cardiac defects, and autonomic dysfunction
Hooft disease
Hoxha-Aliu syndrome
Hunter-Macdonald syndrome
Huppke-Brendel syndrome
Hutterite cerebroosteonephrodysplasia syndrome
ICHAD syndrome
IVIC syndrome
IgE responsiveness, atopic
Imagawa-Matsumoto syndrome
Jaberi-Elahi syndrome
Jalili syndrome
Jawad syndrome
Juberg-Hayward syndrome
Jumping Frenchmen of Maine
KLHL7-related Bohring-Opitz-like syndrome
Kallmann syndrome with spastic paraplegia
Karsch-Neugebauer syndrome
Kasabach-Merritt syndrome
Kaya-Barakat-Masson syndrome
Keipert syndrome
Khan-Khan-Katsanis syndrome
Kifafa seizure disorder
Kniest-like dysplasia with pursed lips and ectopia lentis
Kohlschutter-Tonz syndrome-like
Kury-Isidor syndrome
Kyrle disease
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
Long-Olsen-Distelmaier syndrome
Lopes-Maciel-Rodan syndrome
Lui-Jee-Baron syndrome
Luo-Schoch-Yamamoto syndrome
Luscan-Lumish syndrome
MIRAGE syndrome
MOMO syndrome
MORM syndrome
MTOR-related overgrowth spectrum
Malan overgrowth syndrome
Mammastatin
Marinesco-Sjogren-like syndrome
Martinez-Frias syndrome
Mazabraud syndrome
Meacham syndrome
Meckel diverticulum
Megarbane syndrome
Megarbane-Jalkh syndrome
Melhem-Fahl syndrome
Monophalangy of great toe
Moynahan syndrome
Muggenthaler-Chowdhury-Chioza syndrome
Mullegama-Klein-Martinez syndrome
Mungan syndrome
N-acetylaspartate deficiency
NR2F2 related multiple congenital anomalies/dysmorphic syndrome
Nance-Horan syndrome
Nguyen syndrome
Nizon-Isidor syndrome
O'Donnell-Luria-Rodan syndrome
Okt4 epitope deficiency
Onychotrichodysplasia and neutropenia
Opticocochleodentate degeneration
Oroacral syndrome, Verloes-Koulischer type
Osebold skeletal dysplasia/osteolysis syndrome
PMP22-RAI1 contiguous gene duplication syndrome
PR interval, variation in
Paine syndrome
Pan-Chung-Bellen syndrome
Paramolar tubercle of bolk
Parotidomegaly, hereditary bilateral
Partington-Anderson syndrome
Passovoy factor defect
Pechet factor deficiency
Perlman syndrome
Pierre Robin syndrome-faciodigital anomaly syndrome
Pilotto syndrome
Polyosteolysis-hyperostosis syndrome
Potocki-Lupski syndrome
Prepapillary vascular loops
Primrose syndrome
Protrusio acetabuli
Pseudoatrophoderma colli
Pseudofolliculitis barbae
Pseudopili annulati
Pseudouridinuria and mental defect
Rabin-Pappas syndrome
Rabson-Mendenhall syndrome
Radio-Tartaglia syndrome
Rahman syndrome
Ramon syndrome
Rauch-Steindl syndrome
Raynaud disease
Reese retinal dysplasia
Reynolds syndrome
Robin sequence-oligodactyly syndrome
Robinow-Sorauf syndrome
Rombo syndrome
Roussy-Levy syndrome
Rowley-Rosenberg syndrome
STAD syndrome
Sabinas brittle hair syndrome
Sakoda complex
Santos syndrome
Schnyder corneal dystrophy
Sener syndrome
Shashi-Pena syndrome
Short stature, Dauber-Argente type
Shukla-Vernon syndrome
Siddiqi 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
Somatomedin, embryonic
Spondylospinal thoracic dysostosis
Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features
Stevenson-Carey syndrome
Suleiman-El-Hattab syndrome
Sweeney-Cox syndrome
T-cell Subgroups, non-HLA-linked
T-cell immunodeficiency with epidermodysplasia verruciformis
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
T-substance anomaly
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Tan-Almurshedi syndrome
Taqi polymorphism
Tayoun-Maawali syndrome
Tenorio syndrome
Tented eyebrows
Thai symphalangism syndrome
Tn polyagglutination syndrome
Tolchin-Le Caignec syndrome
Tonoki syndrome
Tristichiasis
Tryptophanuria with dwarfism
Tuftsin deficiency
Tyrosinosis
Undritz anomaly
Upington disease
Usher syndrome, type 1M
Usmani-Riazuddin syndrome, autosomal dominant
Usmani-Riazuddin syndrome, autosomal recessive
VACTERL association, X-linked, with or without hydrocephalus
VISS syndrome
Valinemia
Vissers-Bodmer syndrome
Warsaw breakage syndrome
Webb-Dattani syndrome
Weyers ulnar ray/oligodactyly syndrome
White-Kernohan syndrome
Wiedemann-Steiner syndrome
Wolfram syndrome 2
Woronets trait
X-linked complicated corpus callosum dysgenesis
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Y chromosome infertility due to DAZ1 deletion
Yao syndrome
Yuksel-Vogel-Bauer syndrome
ZTTK syndrome
Zaki syndrome
Ablepharon macrostomia syndrome
Absence deformity of leg-cataract syndrome
Absent radius-anogenital anomalies syndrome
Acetyl-CoA acetyltransferase-2 deficiency
Acetyl-coa carboxylase deficiency
Acetylation, slow
Achalasia, familial esophageal
Acinar dysplasia caused by mutation in FGF10
Acinar dysplasia caused by mutation in FGFR2
Acinar dysplasia caused by mutation in TBX4
Acroleukopathy, symmetric
Acromegaloid changes, cutis verticis gyrata, and corneal leukoma
Acromegaloid features, overgrowth, cleft palate, and hernia
Acromial dimples
Acroosteolysis-keloid-like lesions-premature aging syndrome
Acute insulin response
Adenosine triphosphatase deficiency, anemia due to
Aganglionosis, total intestinal
Agenesis of cerebral white matter
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
Agenesis of the corpus callosum and congenital lymphedema
Agnathia-otocephaly complex
Alar cleft, isolated
Alcohol sensitivity, acute
Alopecia universalis
Alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
Alpha-thalassemia-myelodysplastic syndrome
Amastia, bilateral, with ureteral triplication and dysmorphism
Amelia and terminal transverse hemimelia
Amelia cleft lip palate hydrocephalus iris coloboma
Amenorrhea-galactorrhea syndrome
Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis
Amyloidosis of gingiva and conjunctiva, with intellectual disability
Amyloidosis, cutaneous bullous
Amyotonia congenita
Amyotrophic dystonic paraplegia
Anal sphincter dysplasia
Anal sphincter myopathy, internal
Anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome
Angiokeratoma corporis diffusum with arteriovenous fistulas
Angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert
Angioosteohypertrophic syndrome
Anhaptoglobinemia
Aniridia - intellectual disability syndrome
Aniridia, microcornea, and spontaneously Reabsorbed cataract
Aniridia-absent patella syndrome
Aniridia-renal agenesis-psychomotor retardation syndrome
Anisocoria
Anisomastia
Ankyloglossia
Annular erythema
Anonychia-ectrodactyly
Anonychia-onychodystrophy with brachydactyly type b and ectrodactyly
Anosmia for isobutyric acid
Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
Antigen defined by monoclonal antibody Aj9
Antigen defined by monoclonal antibody T87
Antithrombin, familial hemorrhagic diathesis due to
Aortic arch interruption, facial palsy, and retinal coloboma
Aplasia of lacrimal and salivary glands
Apraxia of eyelid opening
Arcus senilis
Arms, malformation of
Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
Arteries, anomalies of
Arteriosclerosis, severe juvenile
Arteriovenous malformations of the brain
Arteritis, familial granulomatous, with juvenile polyarthritis
Arthritis, sacroiliac
Arthrogryposis multiplex with deafness, inguinal hernias, and early death
Arthrogryposis, Perthes disease, and upward gaze palsy
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
Arthrogryposis, congenital, lower limb, X-linked
Arthrogryposis, distal, with intellectual disability and characteristic facies
Arthropathy, erosive
Aspirin resistance
Asthma, nasal polyps, and aspirin intolerance
Asthma, short stature, and elevated IgA
Asymmetric short stature syndrome
Ataxia with myoclonic epilepsy and presenile dementia
Ataxia, deafness, and cardiomyopathy
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset
Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability
Ataxia-microcephaly-cataract syndrome
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
Atonic-astatic syndrome of Foerster
Atrial septal defect, secundum, with various cardiac and Noncardiac defects
Atrichia with papular lesions
Atrophia maculosa varioliformis cutis, familial
Aurocephalosyndactyly
Autoinflammation with arthritis and dyskeratosis
Autoinflammation with arthritis and vasculitis
Autoinflammation with episodic fever and immune dysregulation
Autoinflammation with episodic fever and lymphadenopathy
Autoinflammation with pulmonary and cutaneous vasculitis
Autoinflammation, immune dysregulation, and eosinophilia
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency
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
Azoospermia, obstructive, with nephrolithiasis
Azotemia, familial
Baculum, congenital absence of
Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
Beta-amino acids, renal transport of
Beta-aminoisobutyric acid, urinary excretion of
Bilateral microtia-deafness-cleft palate syndrome
Bile acid malabsorption, primary, 1
Bile acid malabsorption, primary, 2
Bile and pancreatic ducts, complete absence of
Bile duct cyst
Biliary malformation with renal tubular insufficiency
Biliary, renal, neurologic, and skeletal syndrome
Bipartite talus
Blepharochalasis, superior
Blepharophimosis - intellectual disability syndrome, SBBYS type
Blepharophimosis-impaired intellectual development syndrome
Blistering, acantholytic, of oral and laryngeal mucosa
Blue color blindness
Blue nevi, familial multiple
Bone marrow failure and diabetes mellitus syndrome
Bone pain, periodic
Brachial palsy, familial congenital
Brachycephaly, trichomegaly, and developmental delay
Brachydactyly, coloboma, and anterior segment dysgenesis
Brachydactyly, intraventricular septal defect, and deafness
Brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability
Brachydactyly, type A2, with microcephaly
Brachymesomelia-renal syndrome
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
Brain malformation renal syndrome
Branchial myoclonus with spastic paraparesis and cerebellar ataxia
Breath-holding Spells
Broad terminal phalanges, familial
Bronchiectasis and nasal polyposis
Bullous dystrophy, macular type
Bundle branch block, familial isolated complete right
Butyrylesterase 1
Calcific aortic disease with immunologic abnormalities, familial
Camera-Marugo-Cohen syndrome
Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
Camptodactyly-ichthyosis syndrome
Cancer, familial, with in vitro Radioresistance
Canine teeth, absence of upper permanent
Capillary infantile hemangioma
Carboxypeptidase N deficiency
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
Cardiac septal defects with coarctation of the aorta
Cardiac, facial, and digital anomalies with developmental delay
Cardiac-urogenital syndrome
Cardioauditory syndrome of Sanchez Cascos
Cardiofacioneurodevelopmental syndrome
Cardiomyopathy associated with myopathy and sudden death
Cardiomyopathy, fatal fetal, due to myocardial calcification
Cardiomyopathy, infantile hypertrophic
Carnitine acetyltransferase deficiency
Carnitine deficiency, myopathic
Carpal displacement
Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome
Cataract, ataxia, short stature, and intellectual disability
Cataract, congenital, with mental impairment and dentate gyrus atrophy
Caudal duplication
Cavernous hemangiomas of face-supraumbilical midline raphe syndrome
Celiac disease-epilepsy-cerebral calcification syndrome
Celiac trunk compression syndrome
Central centrifugal cicatricial alopecia
Central incisors, absence of
Cephalin lipidosis
Cerebellar ataxia and neurosensory deafness
Cerebellar ataxia, benign, with thermoanalgesia
Cerebellar atrophy with seizures and variable developmental delay
Cerebellar atrophy, developmental delay, and seizures
Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
Cerebellar, ocular, craniofacial, and genital syndrome
Cerebral angiopathy, dysphoric
Cerebral malformation, seizures, hypertrichosis, and overlapping fingers
Cerebral sclerosis, diffuse, scholz type
Cerebrocortical degeneration of infancy
Cervical hypertrichosis with underlying kyphoscoliosis
Cervical rib disease
Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction
Cervical vertebrae, agenesis of
Cervical vertebral Bridge
Cervical vertebral dysplasia
Chemodectoma, intraabdominal, with cutaneous angiolipomas
Chloramphenicol toxicity
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Cholestasis with gallstone, ataxia, and visual disturbance
Cholestasis-pigmentary retinopathy-cleft palate syndrome
Cholesteatoma, congenital
Cholesterol pneumonia
Chondrodysplasia-pseudohermaphroditism syndrome
Chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome
Chorea, childhood-onset, with psychomotor retardation
Choroidal osteoma, bilateral
Chromosomal instability with tissue-specific radiosensitivity
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
Circumvallate placenta syndrome
Citrulline transport defect
Clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia
Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
Cleft palate, proliferative retinopathy, and developmental delay
Cleft palate-large ears-small head syndrome
Cocoon syndrome
Cognitive impairment with or without cerebellar ataxia
Colloid cysts of third ventricle
Coloboma, ocular, autosomal recessive
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Colonic varices without portal hypertension
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Combined low LDL and fibrinogen
Comedones, familial Dyskeratotic
Commissural lip pits
Complement factor b deficiency
Conductive deafness-malformed external ear syndrome
Cone-rod synaptic disorder syndrome, congenital nonprogressive
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 disorder of glycosylation, type i/IIx
Congenital enteropathy due to enteropeptidase deficiency
Congenital heart defects and ectodermal dysplasia
Congenital heart defects and skeletal malformations syndrome
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
Congenital heart defects, multiple types, 7
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 smooth muscle hamartoma, with or without hemihypertrophy
Congenital stromal corneal dystrophy
Convulsive disorder, familial, with prenatal or early onset
Coracoclavicular joint, anomalous
Cornea guttata with anterior polar cataracts
Corneal degeneration, band-shaped spheroid
Corneal degeneration, ribbonlike, with deafness
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
Coumarin resistance
Coxa vara
Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay
Cranial nerves, congenital paresis of
Cranial nerves, recurrent paresis of
Cranioacrofacial syndrome
Craniofacial anomalies and anterior segment dysgenesis syndrome
Craniofacial dysplasia - osteopenia syndrome
Craniofacial-deafness-hand syndrome
Craniofaciocardiohepatic syndrome
Craniolenticulosutural dysplasia
Craniometadiaphyseal osteosclerosis with hip dysplasia
Craniorhiny
Craniosynostosis with anomalies of the cranial base and digits
Craniosynostosis-intellectual disability syndrome of 51N and Gettig
Craniosynostosis-intellectual disability-clefting syndrome
Craniosynostosis-scoliosis syndrome
Creases, infra-auricular cutaneous, with tall stature and advanced bone age
Creatine phosphokinase, elevated serum
Crumpled helices and small mouth
Cryofibrinogenemia, familial primary
Cryptotia, familial
Curved nail of fourth toe
Cutis verticis gyrata and intellectual disability
Cutis verticis gyrata, thyroid aplasia, and intellectual disability
Cyanosis and hepatic disease
Cysteine Peptiduria
Cystic disease of lung
Dandy-walker malformation with occipital cephalocele, autosomal dominant
De Sanctis-Cacchione syndrome
Deafness with anhidrotic ectodermal dysplasia
Deafness with labyrinthine aplasia, microtia, and microdontia
Deafness, cataract, impaired intellectual development, and polyneuropathy
Deafness, cataract, retinitis pigmentosa, and sperm abnormalities
Deafness, congenital heart defects, and posterior embryotoxon
Deafness, congenital, and adult-onset progressive leukoencephalopathy
Deafness, congenital, and familial myoclonic epilepsy
Deafness, mid-tone neural
Deafness, neural, congenital moderate
Deafness, neural, with atypical atopic dermatitis
Deafness, sensorineural, with peripheral neuropathy and arterial disease
Deafness, unilateral
Deafness, unilateral, with delayed endolymphatic hydrops
Deafness-ear malformation-facial palsy syndrome
Deafness-epiphyseal dysplasia-short stature syndrome
Deafness-small bowel diverticulosis-neuropathy syndrome
Deafness-vitiligo-achalasia syndrome
Deeah syndrome
Delayed puberty, self-limited
Dementia/parkinsonism with non-Alzheimer amyloid plaques
Dens evaginatus
Dens in dente and palatal invaginations
Dental radicular dysplasia
Dentinogenesis imperfecta type 3
Deoxyribose-5-phosphate aldolase deficiency
Dermal Ridges, patternless
Developmental delay with dysmorphic facies and dental anomalies
Developmental delay with hypotonia, myopathy, and brain abnormalities
Developmental delay with or without dysmorphic facies and autism
Developmental delay with or without epilepsy
Developmental delay with or without intellectual impairment or behavioral abnormalities
Developmental delay with sleep apnea
Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies
Developmental delay with variable intellectual disability and dysmorphic facies
Developmental delay with variable neurologic and brain abnormalities
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
Developmental delay, dysmorphic facies, and brain anomalies
Developmental delay, hypotonia, and impaired language
Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy
Developmental delay, impaired speech, and behavioral abnormalities
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
Developmental delay, language impairment, and ocular abnormalities
Dextrocardia with unusual facies and microphthalmia
Diabetes mellitus, congenital autoimmune
Diabetes, deafness, developmental delay, and short stature syndrome
Diaminopentanuria
Diarrhea, glucose-stimulated secretory, with common variable immunodeficiency
Diastasis recti and weakness of the linea alba
Diastema, dental medial
Diffuse idiopathic skeletal hyperostosis
Dilution, pigmentary
Disabling pansclerotic morphea of childhood
Discrimination, Two-point, reduction 1N
Dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability
Disseminated sclerosis with narcolepsy
Distal osteosclerosis
Distal symphalangism
Distichiasis with congenital anomalies of the heart and peripheral vasculature
Double fingernail of fifth finger
Double nail for fifth toe
Duodenal ulcer due to antral G-cell hyperfunction
Duodenal ulcer, hyperpepsinogenemic 1
Duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery
Dwarfism with stiff joints and ocular abnormalities
Dwarfism with tall vertebrae
Dwarfism, Levi type
Dwarfism, familial, with muscle spasms
Dwarfism, intellectual disability, and eye abnormality
Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone
Dwarfism, proportionate, with hip dislocation
Dysautonomia-like disorder
Dyschromatosis, ichthyosis, deafness, and atopic disease
Dysmorphism-cleft palate-loose skin syndrome
Dysmyelination with jaundice
Dysostosis multiplex, Ain-Naz type
Dysraphism-cleft lip/palate-limb reduction defects syndrome
Dystelephalangy
Dystonia with Ringbinden
Dystonia with cerebellar atrophy
Dystonia, early-onset, and/or spastic paraplegia
Ear antitragus, tag at base of
Ear exostoses
Ear folding
Ear pits, posterior helical
Early repolarization associated with ventricular fibrillation
Early response to neural induction gene
Early-onset familial hypoaldosteronism
Eccrine syringofibroadenomatosis with eyelid abnormalities
Ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet
Ectodermal dysplasia with adrenal cyst
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
Ectodermal dysplasia with intellectual disability and syndactyly
Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
Ectopia lentis 1, isolated, autosomal dominant
Ectopia lentis 2, isolated, autosomal recessive
Ectopia lentis et pupillae
Ectopia pupillae
Ectrodactyly and ectodermal dysplasia without cleft lip/palate
Ectrodactyly of lower limbs, congenital heart defect, and micrognathia
Ectrodactyly-cleft palate syndrome
Edema, familial idiopathic, prepubertal
Electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon
Electroencephalographic peculiarity: fronto-precentral beta wave groups
Emphysema, congenital, with deafness, penoscrotal web, and intellectual disability
Emphysema, hereditary pulmonary
Enamel hypoplasia, cataracts, and aqueductal stenosis
Encephalitis, acute, infection-induced, susceptibility to, 12
Encephalomalacia, multilocular
Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency
Endocardial fibroelastosis and coarctation of abdominal aorta
Endocrine-cerebro-osteodysplasia syndrome
Endothelial dystrophy, congenital hereditary, with nail hypoplasia
Enteropathy, familial, with villous edema and immunoglobulin G2 deficiency
Enuresis, nocturnal, 1
Eosinophilia, familial
Epidermoid cysts
Epidermolysis bullosa with congenital localized absence of skin and deformity of nails
Epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase
Epidermolysis bullosa with diaphragmatic hernia
Epilepsy, partial, with pericentral spikes
Epilepsy, photogenic, with spastic diplegia and intellectual disability
Epiphyseal dysplasia of femoral head, myopia, and deafness
Epiphyseal dysplasia, Baumann type
Episodic muscle weakness, X-linked
Epithelial basolateral chloride conductance regulator, rabbit, homolog of
Epithelial recurrent erosion dystrophy
Epithelial squamous dysplasia, keratinizing desquamative, of urinary tract
Erythema nodosum, familial
Erythema of acral regions
Esophageal ring, lower
Esophagitis, eosinophilic, 1
Esophagitis, eosinophilic, 2
Essential hypertension, genetic
Estrogen resistance syndrome
Ethanolaminosis
Exchondrosis of pinna, posterior
Exercise intolerance, riboflavin-responsive
Exfoliation syndrome
Exostoses-anetodermia-brachydactyly type E syndrome
Exostosis, Dupuytren subungual
Expansile bone lesions
Facial abnormalities, kyphoscoliosis, and intellectual disability
Facial dysmorphism, cleft palate, hearing loss, and camptodactyly
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
Facial dysmorphism, selective tooth agenesis, and choroid calcification
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
Facial spasm
Faciocardiomelic syndrome
Faciothoracogenital syndrome
Factor 9 and Factor XI, combined deficiency of
Factor VIII and Factor IX, combined deficiency of
Factors VIII, IX and XI, combined deficiency of
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 lipochrome histiocytosis
Familial male-limited precocious puberty
Familial pancreatic carcinoma
Familial parathyroid adenoma
Familial partial paralysis
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Familial spontaneous pneumothorax
Familial supernumerary nipples
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
Fever, familial lifelong persistent
Fibrinolytic defect
Fibrodysplasia ossificans progressiva
Fibromatosis, gingival, with hypertrichosis and intellectual disability
Fibromuscular dysplasia, multifocal
Fibrosclerosis, multifocal
Fibrosis, neurodegeneration, and cerebral angiomatosis
Fibula, recurrent dislocation of head of
Fleck corneal dystrophy
Flushing of ears and somnolence
Focal dermal hypoplasia
Focal epithelial hyperplasia
Focal epithelial hyperplasia of the oral mucosa
Focal segmental glomerulosclerosis and neurodevelopmental syndrome
Follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts
Forsythe-wakeling syndrome
Fragile site 10Q23
Frontoocular syndrome
Fructose and galactose intolerance
Fucosidase regulator
Fucosyltransferase 6 deficiency
Fused mandibular incisors
Gamma-A-globulin, defect in assembly of
Gastric mucosal hypertrophy
Gastric volvulus, intrathoracic
Gastrointestinal stromal tumor
Gelatinous drop-like corneal dystrophy
Genitourinary and/or brain malformation syndrome
Genu valgum, st. Helena familial
Giant neutrophil leukocytes
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
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
Global developmental delay, progressive ataxia, and elevated glutamine
Globulin anomaly involving beta (2A)-globulin
Glomuvenous malformation
Glucocorticoid therapy, response to
Glucose-6-phosphate dehydrogenase-like
Glutamic acid decarboxylase, brain, membrane form
Glutamyl ribose-5-phosphate storage disease
Glutathione transferase activity toward trans-stilbene oxide
Gluteal muscles, absence of
Glycosylphosphatidylinositol biosynthesis defect 21
Gonadal agenesis
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
Granddad syndrome
Grange syndrome
Granulomas, congenital cerebral
Granulosis rubra nasi
Graying of hair, precocious
Grouped pigmentation of the retina
Growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia
Growth delay due to insulin-like growth factor I resistance
Growth delay due to insulin-like growth factor type 1 deficiency
Growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Guanylate cyclase 2E
Guanylate kinase 3
Hairy ears, Y-linked
Hairy nose tip
Hairy palms and soles
Hamartoma, Precalcaneal congenital fibrolipomatous
Hand clasping pattern
Headache associated with sexual activity
Hearing loss, noise-induced, susceptibility to
Heart and brain malformation syndrome
Hemangiomatosis, cutaneous, with associated features
Hemifacial myohyperplasia
Hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain
Hemolytic poikilocytic anemia due to reduced ankyrin binding sites
Hemopoietic proliferation
Hepatic adenomas, familial
Hepatic veno-occlusive disease-immunodeficiency syndrome
Hepatorenocardiac degenerative fibrosis
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
Hernia, double inguinal
Heterochromia iridis
High myopia-sensorineural deafness syndrome
Histiocytic dermatoarthritis
Histiocytoma, Angiomatoid fibrous
Holoprosencephaly, recurrent infections, and monocytosis
Human ABL1 deficiency syndrome
Humerofemoral hypoplasia with radiotibial ray deficiency
Humerus trochlea aplasia
Hyaluronan metabolism, defect 1N
Hydrops fetalis, nonimmune, with gracile bones and dysmorphic features
Hydroxyacyl glutathione hydrolase deficiency
Hydroxyprolinemia
Hymen, imperforate
Hyperbiliverdinemia
Hypercalciuria, absorptive, 2
Hyperglycinuria
Hyperheparinemia
Hyperhidrosis palmaris ET plantaris
Hyperimmunoglobulin G1(A1) syndrome
Hyperleucine-Isoleucinemia
Hyperlipoproteinemia, type II, and deafness
Hyperlysinuria with hyperammonemia
Hypermetabolism due to defect in mitochondria
Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2
Hyperopia, high
Hyperostosis cranialis interna
Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria
Hyperphosphatemia, polyuria, and seizures
Hyperpigmentation of Fuldauer and Kuijpers
Hyperpigmentation of eyelid
Hyperproglucagonemia
Hyperproinsulinemia
Hyperreflexia
Hypersecretion of adrenal androgens, familial
Hypersulfaturia
Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes
Hypertelorism and tetralogy of fallot
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Hyperthermia, cutaneous, with headaches and nausea
Hyperthyroxinemia, dystransthyretinemic
Hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency
Hyperthyroxinemia, familial dysalbuminemic
Hypertrophia musculorum vera
Hypertrophic neuropathy and cataract
Hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase
Hypoglycemia, leucine-induced
Hypogonadism with low-grade mental deficiency and microcephaly
Hypogonadism, male
Hypohidrosis with abnormal palmar dermal Ridges
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Hypokalemic alkalosis, familial, with specific renal tubulopathy
Hypokalemic tubulopathy and deafness
Hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial
Hypoparathyroidism-deafness-renal disease syndrome
Hypophosphatemia, renal, with intracerebral calcifications
Hypophosphatemic bone disease
Hypophosphatemic rickets and hyperparathyroidism
Hypopigmentation, organomegaly, and delayed myelination and development
Hypopituitarism, congenital, with central diabetes insipidus
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Hypotaurinemic retinal degeneration and cardiomyopathy
Hypotonia, ataxia, and delayed development syndrome
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
Hypotonia, seizures, and precocious puberty
Hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate
Hypoxanthine guanine phosphoribosyltransferase suppressor
Ichthyosis and male hypogonadism
Ichthyosis congenita with biliary atresia
Ichthyosis prematurity syndrome
Ichthyosis, split hairs, and amino aciduria
Ichthyosis-cheek-eyebrow syndrome
Ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency
Immune dysregulation, autoimmunity, and autoinflammation
Immune dysregulation, neurodevelopmental defects, and colitis
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
Immunodeficiency, developmental delay, and hypohomocysteinemia
Immunodysregulation with variable immunodeficiency and autoimmunity
Immunoglobulin M, level of
Immunoglobulin d level in plasma, low
Impacted teeth, multiple
Imperforate oropharynx-costo vetebral anomalies syndrome
Imprinting gene related to retinoblastoma
Incisors, lower central, absence of
Incisors, rotation of upper central
Incisors, shovel-shaped
Indolylacroyl glycinuria with intellectual disability
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
Inflammatory bowel disease, immunodeficiency, and encephalopathy
Inosine phosphorylase deficiency, immune defect due to
Inosine triphosphatase deficiency
Insect Stings, hypersensitivity to
Insensitivity to pain with hyperplastic Myelinopathy
Insulin-resistance syndrome type A
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
Intellectual developmental disorder with autism and dysmorphic facies
Intellectual developmental disorder with autistic features and language delay, with or without seizures
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
Intellectual developmental disorder with cardiac defects and dysmorphic facies
Intellectual developmental disorder with hypertelorism and distinctive facies
Intellectual developmental disorder with hypotonia and behavioral abnormalities
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
Intellectual developmental disorder with impaired language and dysmorphic facies
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies
Intellectual developmental disorder with ocular anomalies and distinctive facial features
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
Intellectual developmental disorder with or without peripheral neuropathy
Intellectual developmental disorder with paroxysmal dyskinesia or seizures
Intellectual developmental disorder with poor growth and with or without seizures or ataxia
Intellectual developmental disorder with seizures and dysmorphic facies
Intellectual developmental disorder with seizures and language delay
Intellectual developmental disorder with short stature and behavioral abnormalities
Intellectual developmental disorder with short stature and variable skeletal anomalies
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
Intellectual developmental disorder, autosomal dominant 77
Intellectual developmental disorder, autosomal recessive 84
Intellectual disability and myopathy syndrome
Intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature
Intellectual disability, anterior maxillary protrusion, and strabismus
Intellectual disability, keratoconus, febrile seizures, and sinoatrial block
Intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism
Intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration
Intellectual disability, short stature, facial anomalies, and joint dislocations
Intellectual disability-brachydactyly-Pierre Robin syndrome
Intellectual disability-strabismus syndrome
Interferon antiviral depressor
Internal carotid arteries, hypoplasia of
Internal carotid artery, spontaneous dissection of
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
Intussusception
Iridogoniodysgenesis and skeletal anomalies
Iris pattern
Iris pigment epithelium anomalies
Iris pigment layer, cleavage of
Ischio-vertebral syndrome
Isolated hyperferritinemia
Isolated neonatal sclerosing cholangitis
Isolated right ventricular hypoplasia
Isoproterenol-mediated vasodilatation
Isovaleric acid, inability to smell
Jejunal atresia with renal adysplasia
Joint contractures, osteochondromas, and B-cell lymphoma
Juvenile arthritis due to defect in LACC1
Kallikrein, decreased urinary activity of
Keloid formation
Keratitis fugax hereditaria
Keratoconus and congenital hip dysplasia
Keratoconus posticus circumscriptus
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
Keratosis, familial actinic
Knuckle pads
Kyphoscoliosis 1
Labia minora, incomplete adhesion of
Lactic acidosis, chronic adult form
Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
Laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy
Laryngeal adductor paralysis
Laryngeal atresia, encephalocele, and limb deformities
Lateral semicircular canal malformation, familial, with external and middle ear abnormalities
Lattice degeneration of retina leading to retinal detachment
Leg ulcers, familial, of juvenile onset
Lentiginosis, centrofacial neurodysraphic
Lessel-kubisch syndrome
Lethal faciocardiomelic dysplasia
Lethal polymalformative syndrome, Boissel type
Lethal recessive chondrodysplasia
Leukemia, acute myelocytic, with polyposis coli and colon cancer
Leukocyte nuclear appendages, hereditary prevalence of
Leukodystrophy and acquired microcephaly with or without dystonia;
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
Levator-medial rectus synkinesis
Limb transversal defect-cardiac anomaly syndrome
Lip, hamartomatous
Lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis
Lipoprotein types--Lt system
Lipoprotein, variant of beta
Lissencephaly, familial, with cleft palate and cerebellar hypoplasia
Lithium transport
Liver disease, severe congenital
Liver fibrocystic disease and polydactyly
Long chain fatty acids, defect in transport of
Low density lipoprotein cholesterol, mild elevation of
Low density lipoprotein, variation in molecular weight of
Lower urinary tract obstruction, congenital
Lumbar stenosis, familial
Lung disease, immunodeficiency, and chromosome breakage syndrome;
Lymphedema-posterior choanal atresia syndrome
Lymphoid system deterioration, progressive
Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis
Lysine malabsorption syndrome
Macrocephaly, acquired, with impaired intellectual development
Macrocephaly, benign familial
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
Macrocephaly-developmental delay syndrome
Macrocytosis, familial
Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
Macrosomia adiposa congenita
Magnesium, elevated red cell
Maleylacetoacetate isomerase deficiency
Malocclusion and short stature
Malocclusion due to protuberant upper front teeth
Malposition of teeth with or without hypodontia/oligodontia
Mammary-digital-nail syndrome
Mandibulofacial dysostosis syndrome, Bauru type
Mandibulofacial dysostosis with alopecia
Mandibulofacial dysostosis with mental deficiency
Mandibulofacial dysostosis with ptosis, autosomal dominant
Mannose 6-phosphate receptor recognition defect, Lebanese type
Marfanoid habitus with situs inversus
Marfanoid hypermobility syndrome
Masticatory muscles, hypertrophy of
Maxillofacial dysostosis
Mediosternal depigmentation line
Medium chain 3-ketoacyl-Coa thiolase deficiency
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
Megabladder, congenital
Megaepiphyseal dwarfism
Megalencephaly with dysmyelination
Megalencephaly-polydactyly syndrome
Megalodactyly
Melanoma tumor antigen Gp90
Menstrual cycle-dependent periodic fever
Mental and growth retardation with amblyopia
Mesoaxial hexadactyly and cardiac malformation
Mesomelic dwarfism of hypoplastic tibia and radius type
Mesomelic dysplasia, camera type
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
Metachondromatosis
Metachromasia of fibroblasts
Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands
Metaphyseal chondrodysplasia, Pena type
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Metaphyseal dysplasia, anetoderma, and optic atrophy
Metaphyseal modeling abnormality, skin lesions, and spastic paraplegia
Metaphyseal undermodeling, spondylar dysplasia, and overgrowth
Metatarsus varus, type 1
Methionine malabsorption syndrome
Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
Microcephaly, corpus callosum dysgenesis, and cleft lip/palate
Microcephaly, developmental delay, and brittle hair syndrome
Microcephaly, facial abnormalities, micromelia, and intellectual disability
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Microcephaly, growth deficiency, seizures, and brain malformations
Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance
Microcephaly, macrotia, and intellectual disability
Microcephaly, retinitis pigmentosa, and sutural cataract
Microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects
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
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2
Microphthalmia with cyst, bilateral facial clefts, and limb anomalies
Microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies
Microphthalmia, isolated, with coloboma 9
Microphthalmia, isolated, with corectopia
Microspherophakia with hernia
Microspherophakia-metaphyseal dysplasia syndrome
Microtia with meatal atresia and conductive deafness
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
Midline malformations, multiple, with limb abnormalities and hypopituitarism
Milia, multiple eruptive
Mitochondrial import-stimulating factor
Mitochondrial intermembrane space protein Tim12, yeast, homolog of
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Modifier, X-linked, for Neurofunctional defects
Monosodium glutamate sensitivity
Mucus inspissation of respiratory tract
Mullerian aplasia and hyperandrogenism
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
Multiple exostoses with spastic tetraparesis
Multiple fibroadenoma of the breast
Muscle cramps, familial
Muscular atrophy, malignant neurogenic
Muscular dystrophy, adult-onset, with leukoencephalopathy
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome
Muscular dystrophy, congenital, with cerebellar atrophy
Muscular dystrophy, congenital, with or without seizures
Muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers
Muscular hypertonia, lethal
Muscular hypoplasia, congenital universal, of Krabbe
Musk, inability to smell
Myelinated optic nerve fibers
Myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay
Myelodysplastic syndrome associated with isolated del(5q)
Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities
Myeloid tumor suppressor
Myelolymphatic insufficiency
Myeloperoxidase deficiency
Myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders
Myopathy due to malate-aspartate shuttle defect
Myopathy with giant abnormal mitochondria
Myopathy with storage of glycoproteins and Glycosaminoglycans
Myopathy, congenital, with excess of muscle spindles
Myopathy, granulovacuolar lobular, with electrical myotonia
Myostatin-related muscle hypertrophy
Nasal alar collapse, bilateral
Nasal bones, absence of
Nasal groove, familial transverse
Nasal hyperpigmentation, familial transverse
Nephropathy - deafness - hyperparathyroidism syndrome
Nephropathy, chronic tubulointerstitial
Nephropathy, progressive, with deafness
Neurocardiofaciodigital syndrome
Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
Neurodevelopmental, jaw, eye, and digital syndrome
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
Neuroectodermal melanolysosomal disease
Neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia
Neurofacioskeletal syndrome with or without renal agenesis
Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
Neurologic disease, infantile multisystem, with osseous fragility
Neuromuscular disease and ocular or auditory anomalies with or without seizures
Neurooculocardiogenitourinary syndrome
Neurooculorenal syndrome
Neuropathy, congenital, with arthrogryposis multiplex
Neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive
Neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia
Neuropathy, painful
Neuropathy, with paraprotein in serum, cerebrospinal fluid and urine
Neutropenia, chronic familial
Nevus anemicus
Nevus flammeus of nape of neck
Nipples inverted
Nocturnal enuresis, 2
Noduli Cutanei, multiple, with urinary tract abnormalities
Nondisjunction
Nonimmune chronic idiopathic neutropenia of adults
Nose, anomalous shape of
Nuclear ribonucleic acid
Obesity and hypopigmentation
Obesity, hyperphagia, and developmental delay
Obesity-hypoventilation syndrome
Occipital hair, white lock of
Ocular myopathy with curare sensitivity
Ocular pterygium-digital keloid dysplasia syndrome
Oculocerebral hypopigmentation syndrome of Preus
Oculocerebrofacial syndrome, Kaufman type
Oculogastrointestinal-neurodevelopmental syndrome
Oculomotor-abducens synkinesis
Oculopharyngeal myopathy with leukoencephalopathy 1
Oculorenocerebellar syndrome
Oculotrichoanal syndrome
Oculovertebral syndrome
Odontoid hypoplasia
Oligodontia-cancer predisposition syndrome
Olivopontocerebellar atrophy II, autosomal recessive
Omphalocele, X-linked
Omphalocele, autosomal
Omphalocele, diaphragmatic hernia, and radial ray defects
Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
Onychogryposis, pedal, with keratosis plantaris and coarse hair
Ophthalmomandibulomelic dysplasia
Ophthalmoplegia totalis with ptosis and miosis
Ophthalmoplegia, external, and myopia
Ophthalmoplegia, external, with rib and vertebral anomalies
Ophthalmoplegia, familial static
Ophthalmoplegia, familial total, with iris transillumination
Ophthalmoplegic neuromuscular disorder with abnormal mitochondria
Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive
Optic atrophy--spastic paraplegia syndrome
Oral sensibility, disturbance of
Orthostatic hypotensive disorder, Streeten type
Ossicular malformations, familial
Ossified ear cartilages
Osteochondrodysplasia, brachydactyly, and overlapping malformed digits
Osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
Osteodysplasty, precocious, of Danks, Mayne, and Kozlowski
Osteoma of cranial vault, familial
Osteoma of middle ear
Osteootohepatoenteric syndrome
Osteoporosis, childhood- or juvenile-onset, with developmental delay
Osteoporosis-oculocutaneous hypopigmentation syndrome
Osteosclerosis with ichthyosis and fractures
Osteosclerotic chondrodysplasia, lethal, with intracellular inclusions
Otofacioosseous-gonadal syndrome
Otoonychoperoneal syndrome
Ovalocytosis, hereditary hemolytic, with defective erythropoiesis
Ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis
Ovarian hyperstimulation syndrome
Pachydermodactyly, familial
Palant cleft palate syndrome
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Palmaris longus muscle, absence of
Pancreatic beta cell agenesis with neonatal diabetes mellitus
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Pancreatic lymphoma, familial
Pancreatitis, sclerosing cholangitis, and sicca complex
Pancytopenia and occlusive vascular disease
Papillomatosis, confluent and reticulated
Papillomatosis, florid, of nipple
Parasomnia, sleep bruxism type
Parathyroid gland carcinoma
Parotid salivary glands, polycystic dysgenetic disease of
Parotitis, juvenile recurrent
Patella, familial recurrent dislocation of
Patent ductus venosus
Pathological gambling
Pectus excavatum
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Pellagra-like syndrome
Pelvic lipomatosis with crossed renal ectopia
Periodic fever, immunodeficiency, and thrombocytopenia syndrome
Periodontitis, chronic, adult
Peripapillary atrophy, beta type
Peripheral arterial occlusive disease 1
Peripheral cone dystrophy
Peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Pernicious anemia
Peroneal nerve, accessory deep
Peroneus tertius muscle, absence of
Peroxidase, salivary
Phagocytosis, plasma-related defect 1N
Phenformin 4-hydroxylation
Pheochromocytoma-islet cell tumor syndrome
Phlebectasia of lips
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Phosphatase, acid, of tissues
Phosphoglucomutase 4
Phosphoglycoprotein 1
Phosphohydroxylysinuria
Photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction
Pigment dispersion syndrome
Pigmented purpuric eruption
Pilonidal sinus
Pituitary dwarfism with large sella turcica
Plasma clot retraction factor, deficiency of
Plasma fibronectin deficiency
Platelet adenylate cyclase activity
Platelet aggregation, spontaneous
Platelet disorder, undefined
Platelet factor 3 deficiency
Platelet membrane fluidity
Platelet prostacyclin receptor defect
Platelet responsiveness to adrenaline, depressed
Platelet signal processing defect
Platelet-activating factor acetylhydrolase deficiency
Pleoconial myopathy with salt craving
Pleomorphic adenoma
Polycystic bone disease
Polycystic kidney, cataract, and congenital blindness
Polycystic ovary syndrome
Polydactyly-macrocephaly syndrome
Polyhydramnios, chronic idiopathic
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
Polymyoclonus, infantile
Polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive
Polyposis, intestinal, scattered and discrete
Polyposis, intestinal, with multiple exostoses
Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
Polysaccharide, storage of unusual
Popliteal cyst
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Portal vein, cavernous transformation of
Postaxial tetramelic oligodactyly
Posterior column ataxia
Preauricular fistulae, congenital
Preauricular tag, isolated, autosomal dominant, 1
Pregnancy loss, recurrent, 4
Premature centromere division
Premature chromatid separation trait
Presenile dementia, Kraepelin type
Preterm premature rupture of the membranes
Priapism, familial idiopathic
Primary failure of tooth eruption
Primary intraosseous venous malformation
Primordial dwarfism-immunodeficiency-lipodystrophy syndrome
Progesterone resistance
Progressive deafness with stapes fixation
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Progressive non-infectious anterior vertebral fusion
Prolactin deficiency with obesity and enlarged testes
Prolactin deficiency, isolated
Pronation-supination of the forearm, impairment of
Properdin deficiency, X-linked
Prostate cancer aggressiveness quantitative trait locus on chromosome 19
Protein Z deficiency
Protein-losing enteropathy
Proteinuria, chronic benign
Proteolytic capacity of plasma
Protocadherin 3
Prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness
Pruritus, hereditary localized
Pseudoacromegaly with severe insulin resistance
Pseudoarthrogryposis
Pseudohyperaldosteronism type 2
Pseudomonilethrix
Pseudoxanthoma elasticum, forme fruste
Psychomotor retardation, epilepsy, and craniofacial dysmorphism
Pterygium colli, isolated
Pubic bone dysplasia
Pulmonary alveolar microlithiasis
Pulmonary atresia with ventricular septal defect
Pulmonary atresia-intact ventricular septum syndrome
Pulmonary bullae causing pneumothorax
Pulmonic stenosis
Pulmonic stenosis and congenital nephrosis
Pulmonic stenosis and deafness
Pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities
Pupillary membrane, persistence of
Purpura simplex
Pyloric atresia
Pyropoikilocytosis, hereditary
Radial deficiency-tibial hypoplasia syndrome
Radial heads, posterior dislocation of
Radial ray deficiency, X-linked
Radiation sensitivity of natural killer activity
Radiculoneuropathy, fatal neonatal
Radio-renal syndrome
Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male
Radius, aplasia of, with cleft lip/palate
Ragweed sensitivity
Raindrop hypopigmentation
Recombinant 8 syndrome
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Red cell permeability defect
Red cell phospholipid defect with hemolysis
Red color blindness
Red skin pigment anomaly of new guinea
Red-green color blindness
Renal and mullerian duct hypoplasia
Renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
Respiratory papillomatosis, juvenile recurrent, congenital
Respiratory underresponsiveness to hypoxia and hypercapnia
Reticuloendotheliosis, X-linked
Retinal degeneration and epilepsy
Retinal dystrophy and microvillus inclusion disease
Retinal dystrophy with leukodystrophy
Retinal dystrophy with or without macular staphyloma
Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome
Retinal telangiectasia and hypogammaglobulinemia
Retinal venous beading
Retinitis pigmentosa and erythrocytic microcytosis
Retinitis pigmentosa inversa with deafness
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
Retinopathy, pigmentary, and intellectual disability
Rhabdomyosarcoma, embryonal, 2
Rhiny
Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
Rhizomelic limb shortening with dysmorphic features
Ribbing disease
Right pulmonary artery, anomalous origin of, familial
Ring dermoid of cornea
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Salivary duct calculi
Salivary substance, Clostridium botulinum type
Sandestig-stefanova syndrome
Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities
Sebaceous gland hyperplasia, familial presenile
Second metatarsal-metacarpal syndrome
Secretory diarrhea, myopathy, and deafness
Seizures, early-onset, with neurodegeneration and brain calcifications
Sella turcica, bridged
Senile plaque formation
Sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth
Serpinopathy
Setting-Sun phenomenon, familial benign
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
Sex-linked disease
Short stature and Facioauriculothoracic malformations
Short stature and microcephaly with genital anomalies
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, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies
Short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting
Short stature, oligodontia, dysmorphic facies, and motor delay
Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
Short stature-obesity syndrome
Shoulder and thorax deformity-congenital heart disease syndrome
Sister chromatid exchange, frequency of
Skeletal defects, genital hypoplasia, and intellectual disability
Skeletal dysplasia and progressive central nervous system degeneration, lethal
Skeletal dysplasia with delayed epiphyseal and carpal bone ossification
Skeletal dysplasia, mild, with joint laxity and advanced bone age
Skeletal dysplasia, rhizomelic, with retinitis pigmentosa
Snijders blok-fisher syndrome
Sodium-potassium-ATPase activity of red cell
Spastic diplegia and intellectual disability
Spastic paraparesis-cataracts-speech delay syndrome
Spastic paraparesis-deafness syndrome
Spastic paraplegia and Evans syndrome
Spastic paraplegia with associated extrapyramidal signs
Spastic paraplegia with myoclonic epilepsy
Spastic paraplegia, ataxia, and intellectual disability
Spastic paraplegia, mitochondrial
Spastic paraplegia, optic atrophy, and dementia
Spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal
Spastic tetraplegia and axial hypotonia, progressive
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Spatial visualization, aptitude for
Speech-sound disorder
Sperm protamine P4
Sperm-specific antigen 1
Spermatic cord torsion
Spinal dysplasia, Anhalt type
Spinal muscular atrophy with intellectual disability
Spinal muscular atrophy with microcephaly and mental subnormality
Spinal muscular atrophy, infantile, James type
Spinocerebellar ataxia with rigidity and peripheral neuropathy
Spinocerebellar atrophy with pupillary paralysis
Splenogonadal fusion-limb defects-micrognathia syndrome
Splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells
Splenoportal vascular anomalies
Split lower lip
Split-foot malformation-mesoaxial polydactyly syndrome
Split-hand and split-foot with hypodontia
Spondylocostal dysostosis-anal and genitourinary malformations syndrome
Spondylocostal dysostosis-hypospadias-intellectual disability syndrome
Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness
Spondylometaphyseal dysplasia with corneal dystrophy
Spondylosis, cervical
Sternum, premature obliteration of sutures of
Storm syndrome
Streptococcus, group A, severity of infection by
Striae distensae, familial
Structural brain anomalies with impaired intellectual development and craniosynostosis
Structural heart defects and renal anomalies syndrome
Subaortic stenosis, membranous
Succinic acidemia
Sucrosuria, hiatus hernia and intellectual disability
Sudden cardiac failure, alcohol-induced
Sudden cardiac failure, infantile
Sudden infant death-dysgenesis of the testes syndrome
Superior transverse scapular ligament, calcification of, familial
Supernumerary der(22)t(8;22) syndrome
Suppressor of tumorigenicity 3
Surface antigen, glycoprotein 75
Surface polypeptides, anonymous
Symphalangism of toes
Symphalangism with multiple anomalies of hands and feet
Symphalangism, C. S. Lewis type
Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
Syncope, familial vasovagal
Syndesmodysplasic dwarfism
Syndromic multisystem autoimmune disease due to ITCH deficiency
Syngnathia multiple anomalies
Syngnathia-cleft palate syndrome
Synovial chondromatosis, familial, with dwarfism
Syringomas, multiple
Tall stature-intellectual disability-renal anomalies syndrome
Talonavicular coalition
Tardive dyskinesia
Tarsal coalition
Taurodontism
Taurodontism, microdontia, and dens invaginatus
Tear protein, anodal
Teeth present at birth
Teeth, fused
Teeth, odd shapes of
Teeth, supernumerary
Telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature
Temperature-sensitive lethal mutation
Temtamy syndrome
Testes, rudimentary
Testicular anomalies with or without congenital heart disease
Testicular microlithiasis
Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
Tetralogy of fallot and glaucoma
Tetralogy of fallot syndrome, autosomal recessive
Tetramelic monodactyly
Tetrasomy 18p
Thalamic degeneration, symmetric infantile
Thickened earlobes-conductive deafness syndrome
Thrombocytopenia with elevated serum IgA and renal disease
Thrombocytopenia-Robin sequence syndrome
Thumb deformity
Thumb, distal hyperextensibility of
Thumbs, congenital Clasped
Thymic aplasia with fetal death
Thymoma, familial
Thyroid Hurthle cell carcinoma
Thyroid hormone plasma membrane transport defect
Tibia, absence of, with congenital deafness
Tibial torsion, bilateral medial
Tiglic acidemia
Toe, fifth, number of phalanges 1N
Toe, misshapen
Toe, rotated fifth
Toes, relative length of first and second
Toes, space between first and second
Tongue, pigmented fungiform papillae of
Tooth ankylosis
Torus palatinus and torus mandibularis
Transient infantile hypertriglyceridemia and hepatosteatosis
Tremor of intention, ataxia, and lipofuscinosis
Tremor, hereditary essential, and idiopathic normal pressure hydrocephalus
Trichilemmal cyst
Trichoepitheliomas, multiple desmoplastic
Trichohepatoneurodevelopmental syndrome
Trichoscyphodysplasia
Trichotillomania
Trigger thumb
Triokinase and FMN cyclase deficiency syndrome
Triphalangeal thumb with double phalanges
Triphalangeal thumb, Nonopposable
Triphalangeal thumb-polysyndactyly syndrome
Trisomy 18-like syndrome
Trypsinogen deficiency
Tuberculin skin test reactivity, absence of
Tubulin, beta
Tumor suppressor gene on chromosome 11
Tune deafness
Turnpenny-fry syndrome
Ubiquitin-activating enzyme, Y-linked
Ulna hypoplasia-intellectual disability syndrome
Ulnar agenesis and endocardial fibroelastosis
Ulnar hypoplasia-split foot syndrome
Ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia
Umbilicus, familial flat
Uncombable hair syndrome 1
Uncombable hair syndrome 2
Uncombable hair syndrome 3
Unique green phenomenon
Ureter, bifid or double
Ureterocele
Urinary bladder, atony of
Urogenital adysplasia
Urolithiasis, uric acid, autosomal dominant
Uterine anomalies
Uveal coloboma-cleft lip and palate-intellectual disability
Vacuolar Neuromyopathy
Van Bogaert-Hozay syndrome
Varicella, severe recurrent
Vascular helix of umbilical cord
Vascular hyalinosis
Vasculitis, lymphocytic, cutaneous small vessel
Veins, pattern of, on anterior thorax
Ventriculomegaly and arthrogryposis
Ventriculomegaly with defects of the radius and kidney
Ventriculomegaly-cystic kidney disease
Venular insufficiency, systemic
Vertebral anomalies and variable endocrine and T-cell dysfunction
Vertebral hypersegmentation and orofacial anomalies
Vertebral hypoplasia with lumbar kyphosis
Vertebral, cardiac, tracheoesophageal, renal, and limb defects
Vestibulocochlear dysfunction, progressive
Visceral leishmaniasis
Visual impairment and progressive phthisis bulbi
Vitamin D-dependent rickets, type 3
Vitiligo, progressive, with intellectual disability and urethral duplication
Vitreoretinopathy with phalangeal epiphyseal dysplasia
Warburg-cinotti syndrome
Widow's peak syndrome
Woolly hair-skin fragility syndrome
Wooly hair, autosomal recessive 3
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
Xerosis and growth failure with immune and pulmonary dysfunction syndrome
Xylosidase deficiency
Yakut short stature syndrome
Zinc deficiency, transient neonatal

Rare disease

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