At a Glance
Abnormal hair quantity;
3-Methylglutaconic aciduria type 1;
3-Methylglutaconic aciduria type 2
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Abnormal hair quantity
3-Methylglutaconic aciduria type 1
3-Methylglutaconic aciduria type 2
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
ACTH resistance
Abdominal pain
Abnormal blistering of the skin
Abnormal ciliary motility
Abnormal dermatoglyphics
Abnormal eyebrow morphology
Abnormal facial shape
Abnormal localization of kidney
Abnormal lower motor neuron morphology
Abnormal macular morphology
Abnormal nipple morphology
Abnormal pericardium morphology
Abnormal posturing
Abnormal pulmonary valve morphology
Abnormal pyramidal signs
Abnormal toenail morphology
Abnormality of coagulation
Abnormality of dental color
Abnormality of dental enamel
Abnormality of dental morphology
Abnormality of extrapyramidal motor function
Abnormality of female internal genitalia
Abnormality of finger
Abnormality of immune system physiology
Abnormality of leukocytes
Abnormality of metabolism/homeostasis
Abnormality of neutrophils
Abnormality of retinal pigmentation
Abnormality of skin pigmentation
Abnormality of temperature regulation
Abnormality of the bronchi
Abnormality of the dentition
Abnormality of the endocardium
Abnormality of the eye
Abnormality of the eyelid
Abnormality of the fingernails
Abnormality of the foot
Abnormality of the gastric mucosa
Abnormality of the genital system
Abnormality of the hand
Abnormality of the helix
Abnormality of the liver
Abnormality of the menstrual cycle
Abnormality of the nail
Abnormality of the oral cavity
Abnormality of the palate
Abnormality of the pharynx
Abnormality of the pleura
Abnormality of the pulmonary artery
Abnormality of the renal tubule
Abnormality of the skeletal system
Abnormality of the spleen
Abnormality of the testis
Abnormality of the thymus
Abnormality of the thyroid gland
Abnormality of the tongue
Abnormality of the urinary system
Abnormality of the vagina
Abnormality of thrombocytes
Abnormality of toe
Absent outer dynein arms
Absent thumb
Acidosis
Acne inversa, familial, 2
Acute kidney injury
Acute leukemia
Acute lymphoblastic leukemia
Acute lymphoid leukemia
Acute myeloid leukemia
Adenoma sebaceum
Afibrinogenemia
Agammaglobulinemia
Agammaglobulinemia 2, autosomal recessive
Agammaglobulinemia 3, autosomal recessive
Agammaglobulinemia 4, autosomal recessive
Agammaglobulinemia 5, autosomal dominant
Agammaglobulinemia 6, autosomal recessive
Agammaglobulinemia 7, autosomal recessive
Age-related macular degeneration 13
Age-related macular degeneration 14
Age-related macular degeneration 4
Age-related macular degeneration 9
Agenesis of corpus callosum
Aicardi Goutieres syndrome 1
Aicardi Goutieres syndrome 2
Aicardi Goutieres syndrome 3
Aicardi Goutieres syndrome 4
Aicardi Goutieres syndrome 5
Aicardi-Goutieres syndrome 6
Aicardi-Goutieres syndrome 7
Albinism
Allergic rhinitis
Alopecia
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Alzheimer's disease
Aminoaciduria
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1
Anauxetic dysplasia 1
Anemia
Anemia without thromobocytopenia, X-linked
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Anonychia
Apathy
Aplasia/Hypoplasia affecting the eye
Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the skin
Aplastic anemia
Aplastic/hypoplastic toenail
Arachnoid cyst
Arteriovenous malformation
Arthralgia
Arthritis
Ascites
Aseptic necrosis
Aspergillosis, susceptibility to
Asplenia
Asplenia, isolated congenital
Asthma
Asymmetric growth
Asymmetry of the thorax
Ataxia
Ataxia-telangiectasia syndrome
Atelectasis
Atresia of the external auditory canal
Atrial septal defect 7 with or without atrioventricular conduction defects
Atypical hemolytic uremic syndrome
Atypical hemolytic-uremic syndrome 1
Atypical hemolytic-uremic syndrome 2
Atypical hemolytic-uremic syndrome 3
Atypical hemolytic-uremic syndrome 4
Atypical hemolytic-uremic syndrome 5
Atypical hemolytic-uremic syndrome 6
Atypical mycobacteriosis, familial, X-linked 2
Autoimmune disease, syndromic multisystem
Autoimmune hemolytic anemia
Autoimmune lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome, type 2A
Autoimmune thrombocytopenia
Autoimmunity
Autoinflammation with infantile enterocolitis
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated
Autosomal dominant inheritance
B-cell expansion with NFKB and T-cell anergy
Bacteremia, susceptibility to, 1
Baller-Gerold syndrome
Bannayan-Riley-Ruvalcaba syndrome
Baraitser-Winter syndrome
Bare lymphocyte syndrome 2
Bare lymphocyte syndrome type 1
Basal cell carcinoma
Basal laminar drusen
Behavioral abnormality
Benign neoplasm of the central nervous system
Bernard Soulier syndrome
Bernard-Soulier syndrome, type A2, autosomal dominant
Beta-D-mannosidosis
Bicuspid aortic valve
Bifid scrotum
Bladder carcinoma
Blau syndrome
Blepharophimosis
Bloom syndrome
Bone marrow failure syndrome 1
Bone marrow hypocellularity
Bone pain
Brachydactyly
Brain atrophy
Breast-ovarian cancer, familial 2
Breast-ovarian cancer, familial 3
Brittle hair
Broad forehead
Broad nasal tip
Bronchiectasis with or without elevated sweat chloride 1
Bruising susceptibility
Budd-Chiari syndrome
Bulbar palsy
C1q deficiency
CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy
CFHR5 deficiency
CHARGE association
CNS hypomyelination
CVID
Camptodactyly
Camptodactyly of finger
Candidiasis, familial, 2
Candidiasis, familial, 6
Candidiasis, familial, 8
Carbohydrate-deficient glycoprotein syndrome type I
Carcinoma of colon
Carcinoma of pancreas
Cardiac arrhythmia
Cardio-facio-cutaneous syndrome
Cardiofaciocutaneous syndrome 2
Cardiomyopathy
Carious teeth
Carnevale syndrome
Caspase-8 deficiency
Cataract
Cavernous hemangioma
Cd8 deficiency, familial
Celiac disease 3
Cellular immunodeficiency
Central adrenal insufficiency
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
Cerebellar atrophy
Cerebellar vermis hypoplasia
Cerebral atrophy
Cerebral calcification
Cerebral cortical atrophy
Cerebrooculofacioskeletal syndrome 2
Cerebroretinal microangiopathy with calcifications and cysts 1
Ceroid lipofuscinosis neuronal 2
Cheilitis
Chiari malformation type II
Chilblain Lupus
Chilblain lupus 2
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Chorioretinal coloboma
Choroid plexus papilloma
Chronic bronchitis
Chronic diarrhea
Chronic granulomatous disease, X-linked
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
Chronic infantile neurological, cutaneous and articular syndrome
Chronic lung disease
Chronic mucocutaneous candidiasis
Chronic obstructive pulmonary disease
Chédiak-Higashi syndrome
Ciliary dyskinesia
Ciliary dyskinesia, primary, 10
Ciliary dyskinesia, primary, 11
Ciliary dyskinesia, primary, 12
Ciliary dyskinesia, primary, 13
Ciliary dyskinesia, primary, 14
Ciliary dyskinesia, primary, 15
Ciliary dyskinesia, primary, 16
Ciliary dyskinesia, primary, 17
Ciliary dyskinesia, primary, 19
Ciliary dyskinesia, primary, 2
Ciliary dyskinesia, primary, 22
Ciliary dyskinesia, primary, 3
Ciliary dyskinesia, primary, 6
Ciliary dyskinesia, primary, 7
Ciliary dyskinesia, primary, 9
Cleft palate
Cleft upper lip
Clinodactyly
Clinodactyly of the 5th finger
Clubbing of fingers
Coarctation of aorta
Coarse hair
Cognitive impairment
Cohen syndrome
Colitis
Colorectal cancer
Combined cellular and humoral immune defects with granulomas
Combined immunodeficiency
Combined immunodeficiency, X-linked
Common variable immunodeficiency 1
Common variable immunodeficiency 11
Common variable immunodeficiency 2
Common variable immunodeficiency 3
Common variable immunodeficiency 5
Common variable immunodeficiency 6
Common variable immunodeficiency 7
Communicating hydrocephalus
Complement component 2 deficiency
Complement component 3 deficiency, autosomal recessive
Complement component 4, partial deficiency of
Complement component 6 deficiency
Complement component 7 deficiency
Complement component 8 deficiency type 1
Complement component 8 deficiency type 2
Complement component 9 deficiency
Complement component c1r/c1s deficiency
Complement component c1s deficiency
Complement factor B deficiency
Complement factor d deficiency
Complete trisomy 21 syndrome
Conductive hearing impairment
Cone-rod dystrophy
Cone-rod dystrophy, X-linked 1
Congenital amegakaryocytic thrombocytopenia
Congenital bilateral absence of the vas deferens
Congenital cataract
Congenital cerebellar hypoplasia
Congenital defect of folate absorption
Congenital disorder of glycosylation type 2B
Congenital disorder of glycosylation type 2C
Congenital disorder of glycosylation type 2F
Congenital disorder of glycosylation type 2L
Congenital giant melanocytic nevus
Congenital ocular coloboma
Congenital omphalocele
Congestive heart failure
Conjunctivitis
Conotruncal heart malformations
Constipation
Corneal opacity
Cortical gyral simplification
Cortical myoclonus
Cough
Cowden syndrome
Cranial asymmetry
Cranial nerve paralysis
Craniosynostosis 1
Cryptorchidism
Curly hair
Cutaneous anergy
Cutaneous finger syndactyly
Cutaneous malignant melanoma 1
Cutaneous malignant melanoma 9
Cutaneous melanoma
Cyclical neutropenia
Cystic fibrosis
Cystic hygroma
Dandy-Walker syndrome
Deafness, autosomal dominant nonsyndromic sensorineural 17
Death in infancy
Decreased T cell activation
Decreased antibody level in blood
Decreased lymphocyte apoptosis
Decreased number of CD4+ T cells
Deep philtrum
Deeply set eye
Defective T cell proliferation
Deficiency of alpha-mannosidase
Delayed eruption of teeth
Delayed skeletal maturation
Delayed speech and language development
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Dental malocclusion
Depressed nasal bridge
Depressed nasal ridge
Developmental regression
DiGeorge sequence
Diabetes mellitus
Diabetes mellitus type 1
Diabetes mellitus, insulin-dependent, 10
Diabetes mellitus, insulin-dependent, 12
Diamond-Blackfan anemia
Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 3
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia 6
Diamond-Blackfan anemia 7
Diamond-Blackfan anemia 8
Diamond-Blackfan anemia 9
Diarrhea
Dilated cardiomyopathy
Disinhibition
Displacement of the external urethral meatus
Disseminated atypical mycobacterial infection
Disseminated intravascular coagulation
Downslanted palpebral fissures
Downturned corners of mouth
Duodenal atresia
Duodenal stenosis
Dysarthria
Dyskeratosis congenita
Dyskeratosis congenita X-linked
Dyskeratosis congenita autosomal dominant
Dyskeratosis congenita autosomal recessive 1
Dyskeratosis congenita, autosomal dominant, 2
Dyskeratosis congenita, autosomal dominant, 3
Dyskeratosis congenita, autosomal recessive 2
Dyskeratosis congenita, autosomal recessive, 3
Dysphagia
EEG abnormality
EPIDERMODYSPLASIA VERRUCIFORMIS
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant
Eculizumab, poor response to
Eczema
Elevated hepatic transaminases
Elevated red cell adenosine deaminase activity
Elevated serum creatine phosphokinase
Emphysema
Encephalitis
Encephalopathy, acute, infection-induced, 3, suceptibility to
Endometrial carcinoma
Enlarged thorax
Enterocolitis
Epicanthus
Epidermal nevus
Epistaxis
Erysipelas
Esophageal stenosis
Everted lower lip vermilion
External ear malformation
Extramedullary hematopoiesis
Facial dysmorphism, immunodeficiency, livedo, and short stature
Factor H deficiency
Factor V deficiency
Factor VII deficiency
Factor XIII subunit A deficiency
Factor XIII subunit B deficiency
Failure to thrive
Familial Mediterranean fever
Familial amyloid nephropathy with urticaria AND deafness
Familial cancer of breast
Familial chronic mucocutaneous candidiasis
Familial cold autoinflammatory syndrome
Familial cold autoinflammatory syndrome 2
Familial cold autoinflammatory syndrome 3
Familial erythrocytosis, 1
Familial expansile osteolysis
Familial mediterranean fever, autosomal dominant
Familial platelet disorder with associated myeloid malignancy
Familial visceral amyloidosis, Ostertag type
Fanconi anemia, complementation group A
Fanconi anemia, complementation group B
Fanconi anemia, complementation group C
Fanconi anemia, complementation group D1
Fanconi anemia, complementation group D2
Fanconi anemia, complementation group E
Fanconi anemia, complementation group F
Fanconi anemia, complementation group G
Fanconi anemia, complementation group I
Fanconi anemia, complementation group J
Fanconi anemia, complementation group L
Fanconi anemia, complementation group M
Fanconi anemia, complementation group N
Fanconi anemia, complementation group O
Fanconi anemia, complementation group P
Fanconi anemia, complementation group Q
Fasciculations
Feeding difficulties
Feeding difficulties in infancy
Fever
Fibrous dysplasia of jaw
Finger syndactyly
Flat face
Focal segmental glomerulosclerosis 4, susceptibility to
Follicular hyperplasia
Follicular lymphoma 1
Follicular thyroid carcinoma
Forearm reduction defects
Frontal bossing
Frontotemporal dementia
Full cheeks
Gastric lymphoma
Gastritis
Gastrointestinal hemorrhage
Gastrointestinal stroma tumor
Generalized hyperpigmentation
Generalized hypopigmentation
Generalized hypotonia
Genu recurvatum
Gingival bleeding
Gingival overgrowth
Glaucoma
Glioma susceptibility 2
Glioma susceptibility 3
Global developmental delay
Glucose-6-phosphate transport defect
Glycogen storage disease type 1A
Graft-versus-host disease, susceptibility to
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
Griscelli syndrome type 1
Griscelli syndrome type 2
Griscelli syndrome type 3
Growth delay
Growth hormone deficiency
Growth hormone insensitivity with immunodeficiency
Haim-Munk syndrome
Hashimoto thyroiditis
Hearing impairment
Helicobacter pylori infection, susceptibility to
Hemangioma
Hematochezia
Hematologic neoplasm
Hematuria
Hemifacial hypertrophy
Hemimegalencephaly
Hemiplegia/hemiparesis
Hemolytic anemia
Hemolytic uremic syndrome, atypical, susceptibility to
Hemolytic-uremic syndrome
Hemophagocytic lymphohistiocytosis, familial, 2
Hemophagocytic lymphohistiocytosis, familial, 3
Hemophagocytic lymphohistiocytosis, familial, 4
Hemophagocytic lymphohistiocytosis, familial, 5
Hemoptysis
Hennekam lymphangiectasia-lymphedema syndrome
Heparin cofactor II deficiency
Hepatic failure
Hepatic venoocclusive disease with immunodeficiency
Hepatitis b virus, susceptibility to
Hepatitis c virus, susceptibility to
Hepatocellular carcinoma
Hepatomegaly
Hereditary acrodermatitis enteropathica
Hereditary angioedema type 1
Hereditary diffuse gastric cancer
Hereditary disease
Hereditary factor IX deficiency disease
Hereditary factor VIII deficiency disease
Hereditary factor XI deficiency disease
Hereditary neutrophilia
Hereditary nonpolyposis colorectal cancer type 4
Hereditary nonpolyposis colorectal cancer type 5
Hereditary nonpolyposis colorectal carcinoma
Hereditary pancreatitis
Hermansky Pudlak syndrome 2
Hermansky-Pudlak syndrome 1
Hermansky-Pudlak syndrome 3
Hermansky-Pudlak syndrome 4
Hermansky-Pudlak syndrome 5
Hermansky-Pudlak syndrome 6
Hermansky-Pudlak syndrome 7
Hermansky-Pudlak syndrome 8
Hermansky-Pudlak syndrome 9
Herpes simplex encephalitis 1
Herpes simplex encephalitis, susceptibility to, 3
Herpes simplex encephalitis, susceptibility to, 4
Hidradenitis suppurativa, familial
High forehead
High palate
Histiocytic medullary reticulosis
Histiocytosis-lymphadenopathy plus syndrome
Horseshoe kidney
Human immunodeficiency virus type 1, susceptibility to
Hydrocephalus
Hydrops fetalis
Hyper-IgE syndrome
Hypercoagulability
Hyperhidrosis
Hyperimmunoglobulin D with periodic fever
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
Hyperimmunoglobulin E syndrome
Hyperinsulinemic hypoglycemia familial 5
Hyperkeratosis
Hypermelanotic macule
Hyperphosphaturia
Hypertelorism
Hypertonia
Hypertrichosis
Hypertrophic cardiomyopathy
Hypocalcemia
Hypochromic microcytic anemia
Hypofibrinogenemia
Hypophosphatemic rickets
Hypopigmentation of hair
Hypopigmentation of the fundus
Hypopigmentation of the skin
Hypopigmented skin patches
Hypoplasia of the corpus callosum
Hypoplasia of the maxilla
Hypoplasia of the radius
Hypoplasia of the thymus
Hypoplasia of the ulna
Hypoplastic left heart syndrome 2
Hypoproteinemia, hypercatabolic
Hyporeflexia
Hypospadias
Hypotelorism
Hypothyroidism
Hypothyroidism, congenital, nongoitrous, 5
IL21R immunodeficiency
IRAK4 deficiency
Ichthyosis
Idiopathic fibrosing alveolitis, chronic form
IgG deficiency
IgM deficiency
Ige responsiveness, atopic
Immotile cilia
Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Immunodeficiency
Immunodeficiency 11
Immunodeficiency 13
Immunodeficiency 14
Immunodeficiency 16
Immunodeficiency 17
Immunodeficiency 18
Immunodeficiency 19
Immunodeficiency 20
Immunodeficiency 27b
Immunodeficiency 28
Immunodeficiency 30
Immunodeficiency 31C
Immunodeficiency 31a
Immunodeficiency 32a
Immunodeficiency 32b
Immunodeficiency 51
Immunodeficiency 8
Immunodeficiency due to defect in cd3-zeta
Immunodeficiency due to defect in mapbp-interacting protein
Immunodeficiency due to ficolin 3 deficiency
Immunodeficiency with hyper IgM type 1
Immunodeficiency with hyper IgM type 2
Immunodeficiency with hyper IgM type 3
Immunodeficiency with hyper IgM type 5
Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Immunoglobulin A deficiency 2
Immunoglobulin IgG2 deficiency
Incoordination
Increased antibody level in blood
Increased number of teeth
Increased serum ferritin
Infantile nephronophthisis
Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations
Infertility
Inflammatory abnormality of the eye
Inflammatory bowel disease 1
Inflammatory bowel disease 25, autosomal recessive
Inflammatory bowel disease 28, autosomal recessive
Inflammatory skin and bowel disease, neonatal 1
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Insulin-resistant diabetes mellitus AND acanthosis nigricans
Intellectual disability
Intellectual disability, mild
Interleukin 2 receptor, alpha, deficiency of
Intestinal atresia
Intestinal lymphangiectasis
Intestinal malrotation
Intracranial hemorrhage
Intrauterine growth restriction
Invasive pneumococcal disease, recurrent isolated, 1
Iris coloboma
Irregular dentition
Irregular hyperpigmentation
Ischemic stroke
Joint hemorrhage
Joint hypermobility
Joint laxity
Joint swelling
Joubert syndrome 10
Juvenile myelomonocytic leukemia
Juvenile-onset dystonia
Kabuki syndrome 1
Kabuki syndrome 2
Kallmann syndrome 5
Kartagener syndrome
Kyphoscoliosis
Lacrimation abnormality
Lactic acidosis
Language impairment
Left ventricular hypertrophy
Leiner disease
Leprechaunism syndrome
Leukemia
Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency, type III
Leukopenia
Lig4 syndrome
Limitation of joint mobility
Liver cirrhosis
Long QT syndrome
Long philtrum
Low posterior hairline
Low-set ears
Low-set, posteriorly rotated ears
Lung cancer
Lymphadenopathy
Lymphangioma
Lymphedema
Lymphedema, primary, with myelodysplasia
Lymphoma
Lymphopenia
Lymphoproliferative disorder
Lymphoproliferative syndrome 1
Lymphoproliferative syndrome 1, X-linked
Lymphoproliferative syndrome 2
Lymphoproliferative syndrome 2, X-linked
Lysinuric protein intolerance
MASP2 deficiency
Macrocephalus
Macrocephaly/autism syndrome
Macrocytic anemia
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Macular degeneration, X-linked atrophic
Macular degeneration, age-related, 15
Majeed syndrome
Malabsorption
Malar flattening
Male infertility
Malignant tumor of prostate
Malignant tumor of testis
Mannose-binding protein deficiency
McLeod neuroacanthocytosis syndrome
Mediastinal lymphadenopathy
Medulloblastoma
Megaloblastic anemia due to dihydrofolate reductase deficiency
Melanocytic nevus
Membranous nephropathy
Meningioma
Meningioma, familial
Meningocele
Mental deterioration
Mental retardation, autosomal dominant 2
Mesangiocapillary glomerulonephritis
Mesothelioma, malignant
Metaphyseal chondrodysplasia, McKusick type
Metaphyseal dysplasia without hypotrichosis
Mevalonic aciduria
Michels syndrome
Microcephaly, normal intelligence and immunodeficiency
Micrognathia
Micropenis
Microtia
Microvascular complications of diabetes 4
Migraine
Monocytosis
Motor delay
Multiple congenital anomalies
Multiple congenital anomalies-hypotonia-seizures syndrome 2
Multiple gastrointestinal atresias
Multiple myeloma
Multiple sclerosis, susceptibility to, 5
Muscle weakness
Muscular Diseases
Muscular hypotonia
Mutism
Myalgia
Mycobacterial and viral infections, susceptibility to, autosomal recessive
Mycobacterium tuberculosis, susceptibility to
Myd88 deficiency
Myelodysplastic syndrome
Myelofibrosis
Myeloperoxidase deficiency
Myocardial infarction 1
Myopathy with tubular aggregates
Myopathy, tubular aggregate, 2
Myopia
Nail dystrophy
Nakajo syndrome
Narrow chest
Narrow forehead
Narrow mouth
Narrow nasal ridge
Nasal polyposis
Natural killer cell and glucocorticoid deficiency with DNA repair defect
Nausea and vomiting
Neonatal hypotonia
Neonatal respiratory distress
Neoplasm
Neoplasm of stomach
Neoplasm of the breast
Neoplasm of the pancreas
Nephroblastoma
Nephrocalcinosis
Nephrotic syndrome
Netherton syndrome
Neural tube defects, folate-sensitive
Neurocutaneous melanosis
Neurological speech impairment
Neutropenia
Neutropenia, nonimmune chronic idiopathic, of adults
Neutrophil immunodeficiency syndrome
Nevus sebaceous
Nijmegen breakage syndrome-like disorder
Non-Hodgkin lymphoma
Non-small cell lung cancer
Nonarteritic anterior ischemic optic neuropathy, susceptibility to
Nonmotile sperm
Nonsyndromic microcephaly
Noonan syndrome
Noonan syndrome 3
Normocytic anemia
Numerous congenital melanocytic nevi
Numerous nevi
Nystagmus
Ocular albinism
Onychomycosis
Open mouth
Ophthalmoplegia
Optic atrophy
Oral-facial-digital syndrome
Osteoarthritis
Osteodysplastic primordial dwarfism, type 1
Osteomyelitis, sterile multifocal, with periostitis and pustulosis
Osteopenia
Osteopetrosis autosomal dominant type 2
Osteopetrosis autosomal recessive 1
Osteopetrosis autosomal recessive 2
Osteopetrosis autosomal recessive 4
Osteopetrosis autosomal recessive 6
Osteopetrosis autosomal recessive 7
Osteopetrosis, autosomal recessive 5
Osteopetrosis, autosomal recessive 8
Otitis media
Overgrowth
Overlapping fingers
Pachygyria
Paget disease of bone
Pallor
Palmoplantar carcinoma, multiple self-healing
Palmoplantar keratoderma
Pancreatic cancer 2
Pancreatic cancer 3
Pancytopenia
Panniculitis
Papillon-Lefèvre syndrome
Paroxysmal nocturnal hemoglobinuria
Pectus carinatum
Pectus excavatum
Pericardial lymphangiectasia
Periodontitis, aggressive, 1
Periorbital fullness
Periventricular gray matter heterotopia
Persistent bleeding after trauma
Personality changes
Petechiae
Phosphate transport defect
Pineal hyperplasia AND diabetes mellitus syndrome
Pityriasis rubra pilaris
Plagiocephaly
Plasminogen deficiency, type I
Pneumonia
Poikiloderma with neutropenia
Polycythemia vera
Polyglandular autoimmune syndrome, type 1
Polyglucosan body myopathy
Polyhydramnios
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis
Porencephalic cyst
Porokeratosis, disseminated superficial actinic 1
Postmenopausal osteoporosis
Precocious puberty
Premature graying of hair
Primary microcephaly
Prolidase deficiency
Prolonged partial thromboplastin time
Prominence of the premaxilla
Prominent forehead
Prominent nasal bridge
Prominent occiput
Properdin deficiency, X-linked
Propionyl-CoA carboxylase deficiency
Proptosis
Protein S deficiency
Proteinuria
Proximal muscle weakness
Pruritus
Pseudo von Willebrand disease
Psoriasis
Psoriasis susceptibility 13
Psoriasis susceptibility 2
Psoriatic arthritis, susceptibility to
Ptosis
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2
Pulmonary infiltrates
Pulmonary lymphangiectasia
Pulmonic stenosis
Purine-nucleoside phosphorylase deficiency
Pustular psoriasis, generalized
Pyloric stenosis
Pyogenic arthritis, pyoderma gangrenosum and acne
RAS-associated autoimmune leukoproliferative disorder
Radial aplasia-thrombocytopenia syndrome
Radioulnar synostosis
Rapadilino syndrome
Rasopathy
Recurrent abortion
Recurrent aphthous stomatitis
Recurrent bacterial infections
Recurrent bronchitis
Recurrent fractures
Recurrent fungal infections
Recurrent infections
Recurrent lower respiratory tract infections
Recurrent mycobacterial infections
Recurrent otitis media
Recurrent pneumonia
Recurrent respiratory infections
Recurrent sinopulmonary infections
Recurrent sinusitis
Recurrent skin infections
Recurrent urinary tract infections
Recurrent viral infections
Reduced bone mineral density
Reduced factor VIII activity
Reduced number of teeth
Reduced sperm motility
Reduced tendon reflexes
Relative macrocephaly
Renal adysplasia
Renal cell carcinoma, papillary, 1
Renal hypoplasia
Renal hypoplasia/aplasia
Respiratory insufficiency
Respiratory insufficiency due to defective ciliary clearance
Respiratory tract infection
Restrictive ventilatory defect
Reticular dysgenesis
Retinitis Pigmentosa 23
Retinitis pigmentosa 15
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Revesz syndrome
Rheumatoid arthritis
Rhinitis
Riddle syndrome
Rothmund-Thomson syndrome
Rough bone trabeculation
Round face
Rubinstein-Taybi syndrome
SCHIZENCEPHALY
SHORT syndrome
Sacral dimple
Sarcoidosis, early-onset
Sarcoma
Schimke immunoosseous dysplasia
Schizophrenia
Scoliosis
Scoliosis, idiopathic 3
Seizures
Selective IgA deficiency
Sensorineural hearing loss
Sensory impairment
Severe combined immunodeficiency disease
Severe combined immunodeficiency due to ADA deficiency
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
Severe combined immunodeficiency with sensitivity to ionizing radiation
Severe combined immunodeficiency, atypical
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
Severe congenital neutropenia
Severe congenital neutropenia 2, autosomal dominant
Severe congenital neutropenia 4, autosomal recessive
Severe congenital neutropenia X-linked
Severe congenital neutropenia autosomal dominant
Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
Severe viral infections
Shaheen syndrome
Short 4th metacarpal
Short chin
Short clavicles
Short columella
Short fourth metatarsal
Short nose
Short palpebral fissure
Short philtrum
Short stature, optic nerve atrophy, and Pelger-Huet anomaly
Shprintzen syndrome
Shwachman syndrome
Sideroblastic anemia
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Simpson-Golabi-Behmel syndrome, type 2
Sinusitis
Situs inversus totalis
Skeletal dysplasia
Skeletal muscle atrophy
Skin rash
Skin ulcer
Sleep disturbance
Sparse hair
Spasticity
Specific granule deficiency
Splenic rupture
Splenomegaly
Spondyloenchondrodysplasia with immune dysregulation
Spontaneous abortion
Squamous cell carcinoma of the head and neck
Stage 5 chronic kidney disease
Stenosis of the external auditory canal
Sting-associated vasculopathy, infantile-onset
Subcutaneous hemorrhage
Surfactant metabolism dysfunction, pulmonary, 5
Susceptibility to malaria
Susceptibility to strabismus
Symmetrical dyschromatosis of extremities
Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4)
Syndromic microphthalmia
Syringomyelia
Systemic lupus erythematosus
Systemic lupus erythematosus 16
Systemic lupus erythematosus 6
Systemic lupus erythematosus 9
T-cell immunodeficiency, congenital alopecia and nail dystrophy
T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations
TNF receptor-associated periodic fever syndrome (TRAPS)
Talipes equinovarus
Telangiectases of the cheeks
Telangiectasia of the skin
Telecanthus
Tented upper lip vermilion
Tetralogy of Fallot
Thick lower lip vermilion
Thickened nuchal skin fold
Thickened skin
Thickening of the glomerular basement membrane
Thin upper lip vermilion
Thrombocythemia 3
Thrombocytopenia
Thrombocytopenia, X-linked
Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
Thrombocytosis
Thrombocytosis, benign familial microcytic
Thrombophilia due to activated protein C resistance
Thrombophilia due to protein S deficiency, autosomal recessive
Thrombophilia due to thrombomodulin defect
Thrombophilia, X-linked, due to factor IX defect
Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive
Thrombophlebitis
Thyroid cancer
Tracheoesophageal fistula
Transcobalamin II deficiency
Transitional cell carcinoma of the bladder
Triangular face
Trichohepatoenteric syndrome 1
Trichohepatoenteric syndrome 2
Trichothiodystrophy 1, photosensitive
Tumoral calcinosis, familial, normophosphatemic
Tyrosine kinase 2 deficiency
Umbilical hernia
Upshaw-Schulman syndrome
Uterine leiomyosarcoma
VACTERL association with hydrocephalus
VACTERL association with hydrocephaly, X-linked
Van Maldergem syndrome 1
Vasculitis
Vasculitis in the skin
Vasculopathy, retinal, with cerebral leukodystrophy
Ventricular septal defect
Ventricular septal defect 3
Vertebral segmentation defect
Vici syndrome
Visual impairment
Vitiligo-associated multiple autoimmune disease susceptibility 1
Waldenstrom macroglobulinemia
Warfarin response
Warts, hypogammaglobulinemia, infections, and myelokathexis
Webbed neck
Weight loss
White matter neuronal heterotopia
Wide anterior fontanel
Wide cranial sutures
Wide nasal bridge
Wiskott-Aldrich syndrome 2
X-linked agammaglobulinemia
X-linked agammaglobulinemia with growth hormone deficiency
X-linked severe combined immunodeficiency
XFE progeroid syndrome
Xeroderma pigmentosum, complementation group b
Xeroderma pigmentosum, group D
Xeroderma pigmentosum, group F
gene sequencing
progressive
ACD (16q22.1);
ACP5 (19p13.2);
ACTB (7p22.1);
ADA (20q13.12);
ADA2 (22q11.1)
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Conditions
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Total conditions: 1050
Condition/Phenotype
Identifier
Methodology
Total methods: 0
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