At a Glance
Age-related macular degeneration 2;
3-Methylglutaconic aciduria type 1;
3-Methylglutaconic aciduria type 3
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Age-related macular degeneration 2
3-Methylglutaconic aciduria type 1
3-Methylglutaconic aciduria type 3
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia
Abetalipoproteinaemia
Abnormal electroretinogram
Abnormal facial shape
Abnormal hair quantity
Abnormal localization of kidney
Abnormal lower motor neuron morphology
Abnormal lung lobation
Abnormal macular morphology
Abnormal pyramidal signs
Abnormality of bone mineral density
Abnormality of color vision
Abnormality of dental enamel
Abnormality of extrapyramidal motor function
Abnormality of eye movement
Abnormality of female external genitalia
Abnormality of female internal genitalia
Abnormality of macular pigmentation
Abnormality of pelvic girdle bone morphology
Abnormality of retinal pigmentation
Abnormality of saccadic eye movements
Abnormality of the clavicle
Abnormality of the eyelashes
Abnormality of the foot
Abnormality of the helix
Abnormality of the hip bone
Abnormality of the hypothalamus-pituitary axis
Abnormality of the larynx
Abnormality of the liver
Abnormality of the metacarpal bones
Abnormality of the metaphysis
Abnormality of the palate
Abnormality of the periventricular white matter
Abnormality of the pinna
Abnormality of the renal tubule
Abnormality of the retinal vasculature
Abnormality of the ribs
Abnormality of the spleen
Abnormality of the sternum
Abnormality of the testis
Abnormality of visual evoked potentials
Accessory oral frenulum
Achondrogenesis, type II
Achromatopsia
Achromatopsia 2
Achromatopsia 3
Achromatopsia 4
Acrocallosal syndrome, Schinzel type
Aculeiform cataract
Adolescent nephronophthisis
Adrenoleukodystrophy
Adult junctional epidermolysis bullosa
Adult neuronal ceroid lipofuscinosis
Aganglionic megacolon
Age-related macular degeneration 1
Age-related macular degeneration 4
Age-related macular degeneration 5
Age-related macular degeneration 6
Aggressive behavior
Aicardi Goutieres syndrome 1
Alagille syndrome 1
Albinism, ocular, with sensorineural deafness
Alpha-methylacyl-CoA racemase deficiency
Alstrom syndrome
Amblyopia
Aminoaciduria
Amyloidogenic transthyretin amyloidosis
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1
Amyotrophic lateral sclerosis type 12
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Aniridia 1
Annular pancreas
Anophthalmia
Anophthalmia-microphthalmia syndrome
Anophthalmos with limb anomalies
Anterior segment dysgenesis 3
Anterior segment dysgenesis 7
Anterior segment mesenchymal dysgenesis
Anteverted nares
Apathy
Aplasia/Hypoplasia affecting the eye
Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the earlobes
Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the pancreas
Apnea
Arts syndrome
Asphyxiating thoracic dystrophy 4
Asphyxiating thoracic dystrophy 5
Astigmatism
Ataxia
Ataxia with vitamin E deficiency
Ataxia, spastic, 4, autosomal recessive
Athabaskan brainstem dysgenesis
Atrioventricular septal defect and common atrioventricular junction
Atrophia bulborum hereditaria
Attenuation of retinal blood vessels
Atypical hemolytic-uremic syndrome 1
Atypical scarring of skin
Auditory hallucinations
Autistic disorder of childhood onset
Autosomal dominant inheritance
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
Avascular necrosis of the head of femur
Avellino corneal dystrophy
Axenfeld-Rieger syndrome type 1
Axenfeld-Rieger syndrome type 3
Babinski sign
Baraitser-Winter syndrome
Bardet-Biedl syndrome
Basal laminar drusen
Bell-shaped thorax
Bestrophinopathy, autosomal recessive
Bicornuate uterus
Bietti crystalline corneoretinal dystrophy
Bifid nose with or without anorectal and renal anomalies
Bifid tongue
Bile acid synthesis defect, congenital, 4
Bladder cancer, somatic
Blepharophimosis, ptosis, and epicanthus inversus
Blindness
Bone mineral density quantitative trait locus 1
Bosch-Boonstra-Schaaf optic atrophy syndrome
Bothnia retinal dystrophy
Boucher Neuhauser syndrome
Brachycephaly
Brachydactyly
Bradyopsia
Brain small vessel disease with hemorrhage
Brainstem dysplasia
Branchiooculofacial syndrome
Branchiootic syndrome
Brittle cornea syndrome 2
Brittle hair
Broad nasal tip
Bulbar palsy
Bull's eye macular dystrophy
CHARGE association
COACH syndrome
Camptodactyly
Camptodactyly of finger
Cardiomyopathy
Carpal tunnel syndrome
Cataract
Cataract 1
Cataract 11
Cataract 12, multiple types
Cataract 15, multiple types
Cataract 16, multiple types
Cataract 19, multiple types
Cataract 21, multiple types
Cataract 23, multiple types
Cataract 3, multiple types
Cataract 30
Cataract 33, multiple types
Cataract 39, multiple types
Cataract 40
Cataract 41
Cataract 6, multiple types
Cataract, autosomal dominant
Cataract, autosomal recessive congenital 2
Cataract, autosomal recessive congenital 4
Cataract, autosomal recessive congenital 5
Cataract, congenital nuclear, autosomal recessive 2
Cataract, congenital nuclear, autosomal recessive 3
Cataract, congenital zonular, with sutural opacities
Cataract, coppock-like
Cataract, juvenile, with microcornea and glucosuria
Cataract, microphthalmia and nystagmus
Cataract, posterior polar, 3
Central sleep apnea syndrome
Cerebellar ataxia infantile with progressive external ophthalmoplegia
Cerebellar atrophy
Cerebellar cyst
Cerebellar dysplasia
Cerebellar vermis hypoplasia
Cerebral atrophy
Cerebral cortical atrophy
Cerebro-oculo-facio-skeletal syndrome
Cerebrooculofacioskeletal syndrome 2
Cerebrooculofacioskeletal syndrome 4
Ceroid lipofuscinosis neuronal 1
Ceroid lipofuscinosis neuronal 10
Ceroid lipofuscinosis neuronal 2
Ceroid lipofuscinosis neuronal 5
Ceroid lipofuscinosis neuronal 6
Ceroid lipofuscinosis neuronal 7
Ceroid lipofuscinosis neuronal 8
Ceroid lipofuscinosis, neuronal, 11
Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
Charcot-Marie-Tooth disease, X-linked recessive, type 5
Charcot-Marie-Tooth disease, type 2A2A
Charcot-Marie-Tooth disease, type 4B2
Chilblain Lupus
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Childhood-onset truncal obesity
Choanal atresia
Chorioretinal atrophy
Chorioretinal coloboma
Chorioretinal dysplasia
Choroidal dystrophy, central areolar 2
Choroideremia
Chronic kidney disease
Cleft palate
Cleft upper lip
Clinodactyly
Clinodactyly of the 5th finger
Cockayne syndrome B
Cognitive impairment
Cohen syndrome
Coloboma of optic disc
Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
Combined oxidative phosphorylation deficiency 7
Conductive hearing impairment
Cone dystrophy 3
Cone dystrophy 4
Cone-rod dystrophy
Cone-rod dystrophy 10
Cone-rod dystrophy 11
Cone-rod dystrophy 12
Cone-rod dystrophy 13
Cone-rod dystrophy 15
Cone-rod dystrophy 16
Cone-rod dystrophy 18
Cone-rod dystrophy 2
Cone-rod dystrophy 3
Cone-rod dystrophy 5
Cone-rod dystrophy 6
Cone-rod dystrophy 7
Cone-rod dystrophy 9
Cone-rod dystrophy X-linked 3
Cone-rod dystrophy amelogenesis imperfecta
Cone-rod dystrophy, X-linked 1
Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped epiphysis
Cone/cone-rod dystrophy
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Congenital Stromal Corneal Dystrophy
Congenital cataract
Congenital cataracts, hearing loss, and neurodegeneration
Congenital diaphragmatic hernia
Congenital disorder of glycosylation type 1Q
Congenital hepatic fibrosis
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3
Congenital ocular coloboma
Congenital primary aphakia
Congenital stationary night blindness
Congenital stationary night blindness, autosomal dominant 1
Congenital stationary night blindness, autosomal dominant 2
Congenital stationary night blindness, autosomal dominant 3
Congenital stationary night blindness, type 1B
Congenital stationary night blindness, type 1C
Congenital stationary night blindness, type 1D
Congenital stationary night blindness, type 1E
Congenital stationary night blindness, type 2A
Congenital stationary night blindness, type 2B
Constriction of peripheral visual field
Convex nasal ridge
Cornea plana 2
Corneal dystrophy
Corneal dystrophy and perceptive deafness
Corneal dystrophy, Fuchs endothelial 1
Corneal dystrophy, Fuchs endothelial, 4
Corneal dystrophy, Fuchs endothelial, 6
Corneal dystrophy, posterior polymorphous, 2
Corneal endothelial dystrophy type 2
Corneal epithelial dystrophy
Corneal fragility keratoglobus, blue sclerae AND joint hypermobility
Corneal opacity
Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia
Cortical dysplasia, complex, with other brain malformations 1
Cortical gyral simplification
Coxa plana
Coxa vara
Cranioectodermal dysplasia 4
Craniofacial anomalies and anterior segment dysgenesis syndrome
Craniometaphyseal dysplasia, autosomal recessive type
Craniosynostosis 1
Cryptophthalmos syndrome
Cryptorchidism
Culler-Jones syndrome
Cupped ribs
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
Cutaneous malignant melanoma 8
Czech dysplasia metatarsal type
DE SANCTIS-CACCHIONE SYNDROME
Deafness, X-linked 2
Deafness, autosomal dominant 11
Deafness, autosomal dominant 3a
Deafness, autosomal dominant 3b
Deafness, autosomal recessive 12
Deafness, autosomal recessive 18
Deafness, autosomal recessive 1A
Deafness, autosomal recessive 1b
Deafness, autosomal recessive 2
Deafness, autosomal recessive 23
Deafness, autosomal recessive 48
Deafness, autosomal recessive 77
Decreased antibody level in blood
Decreased body weight
Decreased corneal thickness
Decreased muscle mass
Decreased testicular size
Deeply set eye
Deficiency of galactokinase
Delayed speech and language development
Dementia
Dementia familial British
Dementia, familial Danish
Dent disease 2
Dental malocclusion
Depressed nasal bridge
Depressed nasal ridge
Depressivity
Desbuquois dysplasia 1
Developmental regression
Diabetes mellitus type 2
Dilated cardiomyopathy 1II
Dilated fourth ventricle
Disinhibition
Distal sensory impairment
Dominant hereditary optic atrophy
Downslanted palpebral fissures
Doyne honeycomb retinal dystrophy
Duane syndrome type 2
Duane-radial ray syndrome
Duodenal atresia
Dysarthria
Dyschromatosis universalis hereditaria 3
Dysgenesis of the cerebellar vermis
Dysphagia
Dysplasia of acetabulum
Dystransthyretinemic euthyroidal hyperthyroxinemia
EEM syndrome
Ehlers-Danlos syndrome, classic type
Elongated superior cerebellar peduncle
Encephalocele
Enhanced s-cone syndrome
Enlarged fossa interpeduncularis
Epicanthus
Epilepsy, progressive myoclonic 3
Epileptic encephalopathy, early infantile, 24
Epiphyseal dysplasia, multiple, with myopia and conductive deafness
Episodic tachypnea
Erythrokeratodermia with ataxia
Esotropia
Essential hypertension
Exotropia
External genital hypoplasia
Exudative vitreoretinopathy
Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 4
Exudative vitreoretinopathy 5
Facial palsy
Factor H deficiency
Familial exudative vitreoretinopathy, X-linked
Familial porencephaly
Fasciculations
Febrile seizures, familial, 4
Feeding difficulties
Feeding difficulties in infancy
Femoral bowing
Fibrochondrogenesis
Fibrosis of extraocular muscles, congenital, 1
Fibrosis of extraocular muscles, congenital, 2
Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement
Finger syndactyly
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
Fish-eye disease
Fleck corneal dystrophy
Fleck retina, familial benign
Flexion contracture
Focal dermal hypoplasia
Foot polydactyly
Foveal hypoplasia and presenile cataract syndrome
Frank Ter Haar syndrome
Frontoparietal polymicrogyria
Frontotemporal dementia
Frontotemporal dementia, ubiquitin-positive
Fuchs endothelial corneal dystrophy
Gait disturbance
Gaze palsy, familial horizontal, with progressive scoliosis
Generalized arterial calcification of infancy 2
Genu valgum
Genu varum
Gillespie syndrome
Glaucoma
Glaucoma 1, open angle, G
Glaucoma 1, open angle, O
Glaucoma 3, primary congenital, A
Glaucoma 3, primary congenital, d
Glaucoma 3, primary infantile, b
Glaucoma, normal tension, susceptibility to
Global developmental delay
Glucose intolerance
Granular osmiophilic deposits (GROD) in cells
Groenouw corneal dystrophy type I
Growth delay
Growth hormone deficiency
Hamartoma of tongue
Hand polydactyly
Hearing impairment
Hemeralopia
Hemifacial spasm
Hemolytic anemia due to hexokinase deficiency
Hemorrhage, intracerebral, susceptibility to
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
Hepatic failure
Hepatocellular carcinoma
Hepatomegaly
Hereditary congenital facial paresis
Hereditary disease
Hereditary motor and sensory neuropathy with optic atrophy
Hernia of the abdominal wall
Hidrotic ectodermal dysplasia syndrome
High palate
Highly arched eyebrow
Hirsutism
Holoprosencephaly 2
Holoprosencephaly 3
Holoprosencephaly 4
Holoprosencephaly 5
Holoprosencephaly 9
Horseshoe kidney
Hydrocephalus
Hydrolethalus syndrome 2
Hyperactivity
Hyperferritinemia cataract syndrome
Hyperimmunoglobulin D with periodic fever
Hyperinsulinemia
Hyperlordosis
Hypermetropia
Hypertelorism
Hypertension
Hypertonia
Hypertrichosis
Hyphema
Hypochromic microcytic anemia
Hypogonadism
Hypomagnesemia 5, renal, with ocular involvement
Hypomyelination and Congenital Cataract
Hypoplasia of penis
Hypoplasia of the brainstem
Hypoplasia of the corpus callosum
Hypoplastic inferior ilia
Hypoplastic left atrium
Hypoplastic left heart syndrome 1
Hypoplastic toenails
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
Hyporeflexia
Hyposmia
Hypospadias
Hystrix-like ichthyosis with deafness
IVIC syndrome
Ichthyosis, spastic quadriplegia, and mental retardation
Immunodeficiency 13
Impaired smooth pursuit
Incoordination
Increased neuronal autofluorescent lipopigment
Infantile cerebellar-retinal degeneration
Infantile nephronophthisis
Intellectual disability
Intellectual disability, moderate
Intellectual disability, severe
Intellectual functioning disability
Intervertebral disc disorder
Intrauterine growth restriction
Irido-corneo-trabecular dysgenesis
Iridogoniodysgenesis, dominant type
Iris coloboma
Jeune thoracic dystrophy
Joint dislocation
Joint hypermobility
Joint laxity
Joint stiffness
Joubert syndrome
Joubert syndrome 10
Joubert syndrome 13
Joubert syndrome 14
Joubert syndrome 15
Joubert syndrome 16
Joubert syndrome 2
Joubert syndrome 3
Joubert syndrome 4
Joubert syndrome 5
Joubert syndrome 6
Joubert syndrome 7
Joubert syndrome 8
Joubert syndrome 9
Juvenile macular degeneration and hypotrichosis
Juvenile neuronal ceroid lipofuscinosis
Juvenile retinoschisis
Juvenile-onset dystonia
Kahrizi syndrome
Kallmann syndrome 5
Keratitis, hereditary
Keratitis-ichthyosis-deafness syndrome, autosomal dominant
Keratoconus 1
Keratoderma palmoplantar deafness
Klippel-Feil syndrome 1, autosomal dominant
Klippel-Feil syndrome 3, autosomal dominant
Kniest dysplasia
Knobloch syndrome 1
Knuckle pads, deafness AND leukonychia syndrome
Kyphoscoliosis
Kyphosis
L-ferritin deficiency
Lactic acidosis
Lamellar cataract
Language impairment
Large hyperpigmented retinal spots
Laryngomalacia
Late-onset retinal degeneration
Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type III
Lattice corneal dystrophy type 3A
Leber congenital amaurosis 1
Leber congenital amaurosis 10
Leber congenital amaurosis 11
Leber congenital amaurosis 12
Leber congenital amaurosis 13
Leber congenital amaurosis 14
Leber congenital amaurosis 15
Leber congenital amaurosis 16
Leber congenital amaurosis 17
Leber congenital amaurosis 2
Leber congenital amaurosis 3
Leber congenital amaurosis 4
Leber congenital amaurosis 5
Leber congenital amaurosis 6
Leber congenital amaurosis 7
Leber congenital amaurosis 8
Leber congenital amaurosis 9
Leigh syndrome
Lens subluxation
Lenz microphthalmia syndrome
Leukocoria
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
Limitation of joint mobility
Linear skin defects with multiple congenital anomalies 1
Lipodystrophy, congenital generalized, type 3
Lobulated tongue
Long QT syndrome
Long face
Long philtrum
Low anterior hairline
Low-set ears
Low-set, posteriorly rotated ears
Lowe syndrome
Lung cancer
MORM syndrome
Macrocephalus
Macroglossia
Macrotia
Macular atrophy
Macular corneal dystrophy Type I
Macular degeneration, X-linked atrophic
Macular dystrophy
Macular dystrophy, vitelliform, adult-onset
Malar flattening
Malformation of the heart and great vessels
Marinesco-Sjögren syndrome
Marles Greenberg Persaud syndrome
Marshall syndrome
Martsolf syndrome
Maturity-onset diabetes of the young, type 6
McKusick Kaufman syndrome
Meckel syndrome type 1
Meckel syndrome type 2
Meckel syndrome type 3
Meckel syndrome type 4
Meckel syndrome type 5
Meckel syndrome type 6
Meckel syndrome type 7
Meckel syndrome type 8
Meckel syndrome, type 10
Meckel syndrome, type 9
Medial flaring of the eyebrow
Median cleft lip
Meesman's corneal dystrophy
Melnick-Fraser syndrome
Membranous cataract
Mental retardation, autosomal dominant 19
Meretoja syndrome
Metabolic syndrome X
Metaphyseal cupping
Metaphyseal irregularity
Metaphyseal widening
Methylmalonic acidemia with homocystinuria
Mevalonic aciduria
Microcephaly with chorioretinopathy, autosomal recessive
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcornea
Microcornea, myopic chorioretinal atrophy, and telecanthus
Micrognathia
Micromelia
Micropenis
Microphthalmia
Microphthalmia syndromic 3
Microphthalmia syndromic 5
Microphthalmia syndromic 6
Microphthalmia syndromic 9
Microphthalmia, isolated 2
Microphthalmia, isolated 3
Microphthalmia, isolated 4
Microphthalmia, isolated 5
Microphthalmia, isolated 6
Microphthalmia, isolated 7
Microphthalmia, isolated, with coloboma 3
Microphthalmia, isolated, with coloboma 5
Microphthalmia, isolated, with coloboma 6
Microphthalmia, isolated, with coloboma 7
Microphthalmia, syndromic 11
Microspherophakia
Midface retrusion
Mitochondrial DNA depletion syndrome 1 (MNGIE type)
Mitochondrial DNA depletion syndrome 4B, MNGIE type
Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy
Mitochondrial complex I deficiency
Moderate visual impairment
Mohr-Tranebjaerg syndrome
Molar tooth sign on MRI
Motor delay
Mucolipidosis III Gamma
Mucopolysaccharidosis, MPS-III-C
Multicystic kidney dysplasia
Multiple congenital anomalies
Multiple epiphyseal dysplasia 6
Muscle eye brain disease
Muscular hypotonia
Mutilating keratoderma
Mutism
Myoclonus
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
Myopia
N-terminal acetyltransferase deficiency
Nail-patella syndrome
Nance-Horan syndrome
Nanophthalmos 2
Narrow chest
Narrow face
Narrow forehead
Narrow greater sacrosciatic notches
Narrow mouth
Neonatal adrenoleucodystrophy
Neonatal breathing dysregulation
Neonatal hypotonia
Neoplasm of ovary
Nephrocalcinosis
Nephronophthisis
Nephronophthisis 1
Nephronophthisis 11
Nephronophthisis 12
Nephronophthisis 4
Nephropathy
Nephrotic syndrome
Neuroferritinopathy
Neurological speech impairment
Neuronal ceroid lipofuscinosis
Neuropathy, hereditary motor and sensory, Russe type
Neutropenia
Newfoundland rod-cone dystrophy
Nonsyndromic microcephaly
Norum disease
Nyctalopia
Nystagmus
Obesity
Occipital myelomeningocele
Occult macular dystrophy
Ocular albinism, type II
Ocular coloboma, autosomal recessive
Oculoauricular syndrome
Oculodentodigital dysplasia
Oculodentodigital dysplasia, autosomal recessive
Oculofaciocardiodental syndrome
Oculomotor apraxia
Oguchi disease 2
Oguchi's disease
Oligohydramnios
Ophthalmoparesis
Optic atrophy
Optic atrophy 7
Optic atrophy and cataract, autosomal dominant
Optic disc pallor
Optic nerve hypoplasia
Optic nerve hypoplasia, bilateral
Oral cleft
Oral-facial-digital syndrome
Ornithine aminotransferase deficiency
Orofacial cleft 11
Orofacial-digital syndrome IV
Osteoarthritis with mild chondrodysplasia
Osteopenia
Osteopetrosis autosomal dominant type 1
Osteoporosis with pseudoglioma
Osteosarcoma
Otofaciocervical syndrome 1
Otospondylomegaepiphyseal dysplasia
Ovoid vertebral bodies
Parkinson disease 6, autosomal recessive early-onset
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Patterned dystrophy of retinal pigment epithelium
Pectus excavatum
Pendular nystagmus
Peripheral neuropathy
Peripheral vitreoretinal degeneration
Peroxisome biogenesis disorder 10A
Peroxisome biogenesis disorder 11A
Peroxisome biogenesis disorder 11B
Peroxisome biogenesis disorder 12A
Peroxisome biogenesis disorder 13A
Peroxisome biogenesis disorder 14B
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 2a (zellweger)
Peroxisome biogenesis disorder 3A
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 4a (zellweger)
Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder 5a (zellweger)
Peroxisome biogenesis disorder 6A
Peroxisome biogenesis disorder 6B
Peroxisome biogenesis disorder 7A
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 8A
Peroxisome biogenesis disorder 8B
Peroxisome biogenesis disorder 9B
Persistent hyperplastic primary vitreous
Persistent pupillary membrane
Personality changes
Pes cavus
Pes planus
Phosphoglycerate kinase 1 deficiency
Phosphoribosylpyrophosphate synthetase superactivity
Photophobia
Phthisis bulbi
Phytanic acid storage disease
Pigmentary pallidal degeneration
Pigmentary retinal dystrophy
Pigmented paravenous chorioretinal atrophy
Pilomatrixoma
Pitt-Hopkins syndrome
Pituitary hormone deficiency, combined 6
Platyspondylic lethal skeletal dysplasia Torrance type
Pointed chin
Polycystic kidney dysplasia
Polycystic ovaries
Polydactyly
Polymorphous corneal dystrophy
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Porencephalic cyst
Poretti-Boltshauser syndrome
Porokeratosis, disseminated superficial actinic 1
Postaxial foot polydactyly
Postaxial hand polydactyly
Posterior column ataxia with retinitis pigmentosa
Posterior polymorphous corneal dystrophy 3
Posterior retinal neovascularization
Posterior subcapsular cataract
Posterior synechiae of the anterior chamber
Posterior vitreous detachment
Posteriorly rotated ears
Postmenopausal osteoporosis
Postnatal microcephaly
Preaxial hand polydactyly
Precocious puberty
Premature ovarian failure 3
Prematurely aged appearance
Primary adrenal insufficiency
Primary open angle glaucoma
Primary open angle glaucoma juvenile onset 1
Primary pulmonary hypertension 3
Progressive myositis ossificans
Progressive sclerosing poliodystrophy
Progressive visual loss
Prominent forehead
Prominent nasal bridge
Prominent nose
Proptosis
Protruding tongue
Pseudoexfoliation glaucoma
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Ptosis
Pulmonary hypoplasia
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
Recurrent infections
Recurrent otitis media
Recurrent respiratory infections
Reduced number of teeth
Reduced visual acuity
Reis-Bucklers' corneal dystrophy
Renal adysplasia
Renal coloboma syndrome
Renal cyst
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
Renal hypoplasia
Renal hypoplasia/aplasia
Renal insufficiency
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
Renal-hepatic-pancreatic dysplasia
Renpenning syndrome 1
Respiratory insufficiency
Retinal atrophy
Retinal cone dystrophy 3A
Retinal cone dystrophy 3B
Retinal cone dystrophy 4
Retinal degeneration
Retinal detachment
Retinal dysplasia
Retinal dystrophy
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
Retinal fold
Retinal nonattachment
Retinal thinning
Retinitis Pigmentosa 23
Retinitis pigmentosa
Retinitis pigmentosa 1
Retinitis pigmentosa 10
Retinitis pigmentosa 11
Retinitis pigmentosa 12
Retinitis pigmentosa 13
Retinitis pigmentosa 14
Retinitis pigmentosa 15
Retinitis pigmentosa 17
Retinitis pigmentosa 18
Retinitis pigmentosa 19
Retinitis pigmentosa 2
Retinitis pigmentosa 20
Retinitis pigmentosa 25
Retinitis pigmentosa 26
Retinitis pigmentosa 27
Retinitis pigmentosa 28
Retinitis pigmentosa 30
Retinitis pigmentosa 31
Retinitis pigmentosa 33
Retinitis pigmentosa 35
Retinitis pigmentosa 36
Retinitis pigmentosa 37
Retinitis pigmentosa 38
Retinitis pigmentosa 39
Retinitis pigmentosa 4
Retinitis pigmentosa 40
Retinitis pigmentosa 41
Retinitis pigmentosa 42
Retinitis pigmentosa 43
Retinitis pigmentosa 44
Retinitis pigmentosa 45
Retinitis pigmentosa 46
Retinitis pigmentosa 47
Retinitis pigmentosa 48
Retinitis pigmentosa 49
Retinitis pigmentosa 50
Retinitis pigmentosa 51
Retinitis pigmentosa 54
Retinitis pigmentosa 55
Retinitis pigmentosa 56
Retinitis pigmentosa 57
Retinitis pigmentosa 58
Retinitis pigmentosa 59
Retinitis pigmentosa 60
Retinitis pigmentosa 61
Retinitis pigmentosa 62
Retinitis pigmentosa 66
Retinitis pigmentosa 7
Retinitis pigmentosa 9
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Retinoblastoma
Retinopathy
Retrognathia
Rhizomelia
Rhizomelic chondrodysplasia punctata type 1
Ring dermoid of cornea
SCHIZENCEPHALY
Sandal gap
Sarcotubular myopathy
Schnyder crystalline corneal dystrophy
Sclerocornea
Scoliosis
Scoliosis, idiopathic 3
Scrotal hypoplasia
Seizures
Self-mutilation
Sengers syndrome
Senior-Loken syndrome 1
Senior-Loken syndrome 4
Senior-Loken syndrome 5
Senior-Loken syndrome 6
Senior-Loken syndrome 7
Sensorimotor neuropathy
Sensorineural hearing loss
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Septo-optic dysplasia sequence
Severe Myopia
Severe platyspondyly
Shallow anterior chamber
Short finger
Short long bone
Short metacarpal
Short neck
Short nose
Short philtrum
Short ribs
Short thorax
Short tibia
Short toe
Short-rib thoracic dysplasia 1 with or without polydactyly
Sideroblastic anemia
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Simpson-Golabi-Behmel syndrome, type 2
Single median maxillary incisor
Situs inversus totalis
Skeletal dysplasia
Skeletal muscle atrophy
Sloping forehead
Small cell lung cancer
Smooth philtrum
Snowflake vitreoretinal degeneration
Sorsby fundus dystrophy
Spastic paraplegia 39
Spastic paraplegia 42, autosomal dominant
Spastic paraplegia 7
Spastic tetraplegia
Spasticity
Spinal canal stenosis
Spinocerebellar ataxia 14
Spinocerebellar ataxia 7
Splenomegaly
Spondyloepiphyseal dysplasia
Spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia with cone-rod dystrophy
Spondyloperipheral dysplasia
Stargardt Disease 3
Stargardt disease 1
Stargardt disease 4
Steppage gait
Stickler syndrome type 1
Stickler syndrome, type 2
Stickler syndrome, type 4
Stickler syndrome, type I, nonsyndromic ocular
Susceptibility to strabismus
Sveinsson chorioretinal atrophy
Syndactyly
Syndactyly type 3
Syndromic microphthalmia
Systemic lupus erythematosus
Temtamy syndrome
Tetralogy of Fallot
Thiel-Behnke corneal dystrophy
Thoracic dysplasia
Thoracic hypoplasia
Tibial bowing
Tietz syndrome
Toe syndactyly
Tongue nodules
Tremor
Triangular-shaped open mouth
Trichothiodystrophy 1, photosensitive
Trigonocephaly 2
Truncal obesity
UV-sensitive syndrome
Undetectable electroretinogram
Upslanted palpebral fissure
Urogenital fistula
Usher syndrome, type 1
Usher syndrome, type 1C
Usher syndrome, type 1D
Usher syndrome, type 1F
Usher syndrome, type 1G
Usher syndrome, type 1J
Usher syndrome, type 2A
Usher syndrome, type 2C
Usher syndrome, type 3A
Usher syndrome, type 3B
Uveitis
Van Buchem disease type 2
Vasculopathy, retinal, with cerebral leukodystrophy
Ventricular septal defect
Vesicoureteral reflux
Visual field defect
Visual hallucinations
Visual impairment
Visual loss
Vitelliform macular dystrophy
Vitelliform macular dystrophy type 2
Vitelliform-like macular lesions
Vitreoretinochoroidopathy
Vitreoretinopathy, neovascular inflammatory
Vitreous hemorrhage
WFS1-Related Disorders
Waardenburg syndrome type 2A
Wagner syndrome
Walker-Warburg congenital muscular dystrophy
Warburg micro syndrome
Warburg micro syndrome 1
Warburg micro syndrome 2
Warburg micro syndrome 3
Weill-Marchesani syndrome 3
Wide nasal bridge
Widely spaced teeth
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
Wolfram syndrome
Wolfram syndrome 2
Wolfram-like syndrome, autosomal dominant
Worth disease
Xeroderma pigmentosum, group D
Xeroderma pigmentosum, group G
Zellweger syndrome
Zonular pulverulent cataract 3
Zunich neuroectodermal syndrome
growth hormone deficiency with short stature
partial sensorineural deafness
ABCA4 (1p22.1);
ABCB6 (2q35);
ABCC6 (16p13.11);
ABCD1 (Xq28);
ABHD12 (20p11.21)
more...
Conditions
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Total conditions: 1021
Condition/Phenotype
Identifier
Methodology
Total methods: 0
Method Category
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* Instrument: Not provided
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