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Term With Siblings |
Child Terms |
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17-beta hydroxysteroid dehydrogenase 3 deficiency +
2-aminoadipic 2-oxoadipic aciduria
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-hydroxyisobutryl-CoA hydrolase deficiency
3-methylcrotonyl-CoA carboxylase deficiency +
3-methylglutaconic aciduria type 1
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria type 5
3-methylglutaconic aciduria type 7a
3-methylglutaconic aciduria type 8
3-methylglutaconic aciduria type 9
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
achalasia microcephaly syndrome
acrocapitofemoral dysplasia
acrofacial dysostosis Cincinnati type
acrokeratosis verruciformis
acromelic frontonasal dysostosis
acromesomelic dysplasia, Grebe type
acromesomelic dysplasia, Hunter-Thompson type
acromesomelic dysplasia, Maroteaux type
acromesomelic dysplasia-4
adenine phosphoribosyltransferase deficiency
adult spinal muscular atrophy
adult-onset autosomal dominant demyelinating leukodystrophy
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
advanced sleep phase syndrome +
age related macular degeneration +
agenesis of the corpus callosum with peripheral neuropathy
alacrima, achalasia, and impaired intellectual development syndrome
Alkuraya-Kucinskas syndrome
alopecia, neurologic defects, and endocrinopathy syndrome
alopecia-mental retardation syndrome 1
alopecia-mental retardation syndrome 2
alopecia-mental retardation syndrome 3
alopecia-mental retardation syndrome 4
Alpers-Huttenlocher syndrome +
alpha-2-plasmin inhibitor deficiency
Alpha-B Crystallinopathy with Cataract
amelogenesis imperfecta hypomaturation type 2A2
amelogenesis imperfecta hypomaturation type 2A3
amelogenesis imperfecta hypomaturation type 2A4
amelogenesis imperfecta hypomaturation type 2A5
amelogenesis imperfecta type 1A
amelogenesis imperfecta type 1B
amelogenesis imperfecta type 1C
amelogenesis imperfecta type 1F
amelogenesis imperfecta type 1G
amelogenesis imperfecta type 1H
amelogenesis imperfecta type 1J
amelogenesis imperfecta type 2A1
amelogenesis imperfecta type 2A6
amelogenesis imperfecta type 3A
amelogenesis imperfecta type 3B
amelogenesis imperfecta type 3C
amelogenesis imperfecta type 4
amyotrophic lateral sclerosis type 1
amyotrophic lateral sclerosis type 24
amyotrophic lateral sclerosis type 25
amyotrophic lateral sclerosis type 26
amyotrophic lateral sclerosis type 28
Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
ankyrin-B-related cardiac arrhythmia
Annular Epidermolytic Ichthyosis +
anterior segment dysgenesis 1
anterior segment dysgenesis 2 +
anterior segment dysgenesis 7
anterior segment dysgenesis 8
antithrombin III deficiency
Antley-Bixler syndrome with disordered steroidogenesis
Antley-Bixler syndrome without disordered steroidogenesis
aplasia of lacrimal and salivary glands
apolipoprotein C-III deficiency +
APP-related cerebral amyloid angiopathy
Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation
arrhythmogenic right ventricular dysplasia 1
arrhythmogenic right ventricular dysplasia 10
arrhythmogenic right ventricular dysplasia 12
arrhythmogenic right ventricular dysplasia 13
arrhythmogenic right ventricular dysplasia 14
arrhythmogenic right ventricular dysplasia 3
arrhythmogenic right ventricular dysplasia 4
arrhythmogenic right ventricular dysplasia 5
arrhythmogenic right ventricular dysplasia 8
arrhythmogenic right ventricular dysplasia 9
arthrogryposis multiplex congenita +
asphyxiating thoracic dystrophy 1
asphyxiating thoracic dystrophy 2
asphyxiating thoracic dystrophy 3
asphyxiating thoracic dystrophy 4
asphyxiating thoracic dystrophy 5
ataxia with oculomotor apraxia type 3
Ataxia-Microcephaly-Cataract Syndrome
ataxia-oculomotor apraxia type 4
Athabaskan brainstem dysgenesis syndrome
atrial heart septal defect 2 +
atrial heart septal defect 5
atrial heart septal defect 6
atrial heart septal defect 7
atrial heart septal defect 8
atrial heart septal defect 9
atrichia with papular lesions
autoimmune interstitial lung, joint, and kidney disease
autoimmune lymphoproliferative syndrome type 2A
autoimmune lymphoproliferative syndrome type 2B
autoimmune lymphoproliferative syndrome type 3
autoimmune lymphoproliferative syndrome type 4
autosomal dominant Aarskog syndrome
autosomal dominant Alport syndrome
autosomal dominant beta thalassemia
autosomal dominant centronuclear myopathy +
autosomal dominant cerebellar ataxia +
autosomal dominant chondrodysplasia punctata +
autosomal dominant congenital deafness with onychodystrophy
autosomal dominant craniodiaphyseal dysplasia
autosomal dominant craniometaphyseal dysplasia
autosomal dominant cutis laxa +
autosomal dominant distal hereditary motor neuronopathy +
Autosomal Dominant Dyskeratosis Congenita +
autosomal dominant dystrophic epidermolysis bullosa +
autosomal dominant Emery-Dreifuss muscular dystrophy 4
autosomal dominant Emery-Dreifuss muscular dystrophy 5
autosomal dominant Emery-Dreifuss muscular dystrophy 7
autosomal dominant familial periodic fever
autosomal dominant familial visceral neuropathy
autosomal dominant hyaline body myopathy
autosomal dominant hypocalcemia +
autosomal dominant hypophosphatemic rickets
autosomal dominant intellectual developmental disorder +
autosomal dominant isolated ectopia lentis 1
autosomal dominant keratitis +
autosomal dominant limb-girdle muscular dystrophy +
autosomal dominant macrothrombocytopenia TUBB1-related
autosomal dominant microcephaly +
autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques
autosomal dominant nocturnal frontal lobe epilepsy +
autosomal dominant nonsyndromic deafness +
autosomal dominant osteopetrosis 1
autosomal dominant osteopetrosis 2
autosomal dominant polycystic kidney disease +
autosomal dominant progressive external ophthalmoplegia 1
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6
autosomal dominant pseudohypoaldosteronism type 1
autosomal dominant Robinow syndrome 1
autosomal dominant Robinow syndrome 2
autosomal dominant Robinow syndrome 3
autosomal dominant sensory ataxia 1
autosomal dominant severe congenital neutropenia +
autosomal dominant sideroblastic anemia 4
autosomal dominant spondyloepiphyseal dysplasia tarda
autosomal dominant thrombophilia due to protein S deficiency
autosomal dominant vitreoretinochoroidopathy
autosomal dominant Wolfram syndrome
autosomal dominant woolly hair
autosomal recessive Alport syndrome
autosomal recessive centronuclear myopathy +
autosomal recessive cerebellar ataxia +
autosomal recessive chronic granulomatous disease 1
autosomal recessive chronic granulomatous disease 2
autosomal recessive chronic granulomatous disease 3
autosomal recessive chronic granulomatous disease 4
autosomal recessive chronic granulomatous disease 5
autosomal recessive congenital bilateral absence of vas deferens
autosomal recessive congenital ichthyosis +
autosomal recessive congenital nystagmus
autosomal recessive craniometaphyseal dysplasia
Autosomal Recessive Cutis Laxa +
autosomal recessive distal hereditary motor neuronopathy +
Autosomal Recessive Dyskeratosis Congenita +
autosomal recessive Emery-Dreifuss muscular dystrophy 3
autosomal recessive hyaline body myopathy
autosomal recessive hypophosphatemic rickets +
autosomal recessive intellectual developmental disorder +
autosomal recessive isolated ectopia lentis 2
autosomal recessive limb-girdle muscular dystrophy +
Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract
autosomal recessive nonsyndromic deafness +
autosomal recessive osteopetrosis 1
autosomal recessive osteopetrosis 2
autosomal recessive osteopetrosis 3
autosomal recessive osteopetrosis 4
autosomal recessive osteopetrosis 5
autosomal recessive osteopetrosis 6
autosomal recessive osteopetrosis 7
autosomal recessive osteopetrosis 8
autosomal recessive pericentral pigmentary retinopathy
Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development
autosomal recessive polycystic kidney disease +
autosomal recessive pseudohypoaldosteronism type 1 +
autosomal recessive pyridoxine-refractory sideroblastic anemia 2
autosomal recessive pyridoxine-refractory sideroblastic anemia 3
autosomal recessive Robinow syndrome
autosomal recessive Robinow syndrome 2
autosomal recessive spondyloepiphyseal dysplasia tarda
autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type
autosomal recessive thrombophilia due to protein C deficiency
autosomal recessive thrombophilia due to protein S deficiency
autosomal recessive type IV Ehlers-Danlos syndrome
autosomal recessive Whistling face syndrome
Autosomal Recessive Woolly Hair +
Axenfeld-Rieger syndrome +
axial spondylometaphyseal dysplasia
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
Bainbridge-Ropers syndrome
Baraitser-Winter syndrome 1
Baraitser-Winter syndrome 2
Beare-Stevenson cutis gyrata syndrome
benign familial hematuria +
benign familial infantile seizures 1
benign familial infantile seizures 2
benign familial infantile seizures 3
benign familial infantile seizures 5
benign familial infantile seizures 6
benign recurrent intrahepatic cholestasis 1
benign recurrent intrahepatic cholestasis 2
bent bone dysplasia syndrome 1
bent bone dysplasia syndrome 2
Bernard-Soulier syndrome +
beta-ketothiolase deficiency
BH4-deficient hyperphenylalaninemia A
BH4-deficient hyperphenylalaninemia B
BH4-deficient hyperphenylalaninemia C
BH4-deficient hyperphenylalaninemia D
Bhaskar Jagannathan Syndrome
bilateral frontoparietal polymicrogyria
bilateral optic nerve hypoplasia
bilateral parasagittal parieto-occipital polymicrogyria
blepharocheilodontic syndrome +
blepharophimosis-impaired intellectual development syndrome
Bosch-Boonstra-Schaaf optic atrophy syndrome
Bothnia retinal dystrophy
Bothnian type palmoplantar keratoderma
Boucher-Neuhauser syndrome
brachycephaly, trichomegaly, and developmental delay
brachydactyly-syndactyly syndrome
brachyolmia-amelogenesis imperfecta syndrome
brain small vessel disease 1
brain small vessel disease 2
brain small vessel disease 3
branched-chain keto acid dehydrogenase kinase deficiency
branchiooculofacial syndrome
branchiootorenal syndrome +
brittle cornea syndrome 1
brittle cornea syndrome 2
Brown-Vialetto-Van Laere syndrome 1
Brown-Vialetto-Van Laere syndrome 2
bullous congenital ichthyosiform erythroderma
Buschke-Ollendorff syndrome
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
carbamoyl phosphate synthetase I deficiency disease
carboxypeptidase N deficiency
cardiofaciocutaneous syndrome 1
cardiofaciocutaneous syndrome 2
cardiofaciocutaneous syndrome 3
cardiofaciocutaneous syndrome 4
Carney-Stratakis syndrome
carnitine-acylcarnitine translocase deficiency
cartilage-hair hypoplasia
cataract 1 multiple types
cataract 10 multiple types
cataract 11 multiple types +
cataract 12 multiple types
cataract 13 with adult i phenotype
cataract 14 multiple types
cataract 15 multiple types
cataract 16 multiple types
cataract 17 multiple types A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12. (DO)
cataract 19 multiple types
cataract 2 multiple types
cataract 20 multiple types
cataract 21 multiple types
cataract 22 multiple types
cataract 26 multiple types
cataract 3 multiple types
cataract 31 multiple types
cataract 32 multiple types
cataract 34 multiple types
cataract 39 multiple types
cataract 4 multiple types +
cataract 46 juvenile-onset
cataract 5 multiple types
Cataract 50 with or without Glaucoma
cataract 6 multiple types
cataract 8 multiple types
cataract 9 multiple types
Cataract and Congenital Ichthyosis
Cataract Microcornea Syndrome
Cataract, Age-Related Nuclear
Cataract, Autosomal Dominant Nuclear
Cataract, Autosomal Recessive Congenital 1
Cataract, Congenital Dominant Non Nuclear
Cataract, Cortical Pulverulent, Late-Onset
Cataract, Crystalline Coralliform
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
Cataract, Polymorphic and Lamellar
Cataract, Posterior Polar, 5
Cataract, Progressive Polymorphic Cortical
Cataract, Sutural, with Punctate and Cerulean Opacities
Cataract, Variable Zonular Pulverulent
Cataract, Zonular Central Nuclear
Cataracts, Ataxia, Short Stature, and Mental Retardation
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis +
CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY
Cavitary Optic Disc Anomalies
central conducting lymphatic anomaly
central precocious puberty 1
central precocious puberty 2
cerebellar atrophy, visual impairment, and psychomotor retardation
cerebellofaciodental syndrome
cerebral folate receptor alpha deficiency
cerebrocostomandibular syndrome
cerebrooculofacioskeletal syndrome 2
cerebrooculofacioskeletal syndrome 4
Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease axonal type 2CC
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease axonal type 2H
Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease axonal type 2L
Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease axonal type 2O
Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease axonal type 2Q
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease axonal type 2T
Charcot-Marie-Tooth disease axonal type 2U
Charcot-Marie-Tooth disease axonal type 2V
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease axonal type 2Z
Charcot-Marie-Tooth disease dominant intermediate A
Charcot-Marie-Tooth disease dominant intermediate B +
Charcot-Marie-Tooth disease dominant intermediate C
Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease dominant intermediate F
Charcot-Marie-Tooth disease dominant intermediate G
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease recessive intermediate B
Charcot-Marie-Tooth disease recessive intermediate C
Charcot-Marie-Tooth disease recessive intermediate D
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 1G
Charcot-Marie-Tooth disease type 2A1
Charcot-Marie-Tooth disease type 2A2A
Charcot-Marie-Tooth disease type 2A2B
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2DD
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 2EE
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 2R
Charcot-Marie-Tooth disease type 2Y
Charcot-Marie-Tooth disease type 3
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4G
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease type 4J
Charcot-Marie-Tooth disease type 4K
Charcot-Marie-Tooth disease type 5
Charcot-Marie-Tooth disease, axonal type 2W
Chediak-Higashi syndrome +
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
childhood-onset neurodegeneration with brain atrophy
Cholestasis with Gallstone, Ataxia, and Visual Disturbance
chondrodysplasia with joint dislocations gPAPP type
chromosome 13q14 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q24 deletion syndrome
chromosome 15q25 deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
chromosome 17q12 deletion syndrome
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chromosome 19p13.13 deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1p36.33 duplication syndrome
chromosome 5q12 deletion syndrome
classic dopamine transporter deficiency syndrome
cleft lip-palate-ectodermal dysplasia syndrome
cleft palate, cardiac defects, and intellectual disabillity
cleidocranial dysplasia +
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts
cold-induced sweating syndrome +
combined cellular and humoral immune defects with granulomas
combined D-2- and L-2-hydroxyglutaric aciduria
combined deficiency of vitamin K-dependent clotting factors 1
combined deficiency of vitamin K-dependent clotting factors 2
combined malonic and methylmalonic acidemia
combined oxidative phosphorylation deficiency 1
combined oxidative phosphorylation deficiency 10
combined oxidative phosphorylation deficiency 11
combined oxidative phosphorylation deficiency 12
combined oxidative phosphorylation deficiency 13
combined oxidative phosphorylation deficiency 14
combined oxidative phosphorylation deficiency 15
combined oxidative phosphorylation deficiency 16
combined oxidative phosphorylation deficiency 17
combined oxidative phosphorylation deficiency 18
combined oxidative phosphorylation deficiency 19
combined oxidative phosphorylation deficiency 2
combined oxidative phosphorylation deficiency 20
combined oxidative phosphorylation deficiency 21
combined oxidative phosphorylation deficiency 22
combined oxidative phosphorylation deficiency 23
combined oxidative phosphorylation deficiency 24
combined oxidative phosphorylation deficiency 25
combined oxidative phosphorylation deficiency 26
combined oxidative phosphorylation deficiency 27
combined oxidative phosphorylation deficiency 28
combined oxidative phosphorylation deficiency 29
combined oxidative phosphorylation deficiency 3
combined oxidative phosphorylation deficiency 30
combined oxidative phosphorylation deficiency 31
combined oxidative phosphorylation deficiency 32
combined oxidative phosphorylation deficiency 33
combined oxidative phosphorylation deficiency 34
combined oxidative phosphorylation deficiency 35
combined oxidative phosphorylation deficiency 36
combined oxidative phosphorylation deficiency 37
combined oxidative phosphorylation deficiency 38
combined oxidative phosphorylation deficiency 39
combined oxidative phosphorylation deficiency 4
combined oxidative phosphorylation deficiency 40
combined oxidative phosphorylation deficiency 41
combined oxidative phosphorylation deficiency 42
combined oxidative phosphorylation deficiency 43
combined oxidative phosphorylation deficiency 44
combined oxidative phosphorylation deficiency 45
combined oxidative phosphorylation deficiency 46
combined oxidative phosphorylation deficiency 47
combined oxidative phosphorylation deficiency 48
combined oxidative phosphorylation deficiency 49
combined oxidative phosphorylation deficiency 5
combined oxidative phosphorylation deficiency 50
combined oxidative phosphorylation deficiency 51
combined oxidative phosphorylation deficiency 52
combined oxidative phosphorylation deficiency 53
combined oxidative phosphorylation deficiency 54
combined oxidative phosphorylation deficiency 56
combined oxidative phosphorylation deficiency 57
combined oxidative phosphorylation deficiency 7
combined oxidative phosphorylation deficiency 8
combined oxidative phosphorylation deficiency 9
common variable immunodeficiency +
common variable immunodeficiency 10
common variable immunodeficiency 13
common variable immunodeficiency 14
common variable immunodeficiency 2
complex cortical dysplasia with other brain malformations +
Compton-North congenital myopathy
congenital adrenal insufficiency
congenital afibrinogenemia +
congenital amegakaryocytic thrombocytopenia +
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Congenital Cataracts, Hearing Loss, and Neurodegeneration
congenital central hypoventilation syndrome +
congenital contractural arachnodactyly
congenital diarrhea 5 with tufting enteropathy
congenital diarrhea 7 with exudative enteropathy
congenital disorder of deglycosylation 1
congenital disorder of deglycosylation 2
congenital disorder of glycosylation Ia
congenital disorder of glycosylation Iaa
congenital disorder of glycosylation Ib
congenital disorder of glycosylation Ic
congenital disorder of glycosylation Id
congenital disorder of glycosylation Ie
congenital disorder of glycosylation If
congenital disorder of glycosylation Ig
congenital disorder of glycosylation Ih
congenital disorder of glycosylation Ii
congenital disorder of glycosylation Ij
congenital disorder of glycosylation Ik
congenital disorder of glycosylation Il
congenital disorder of glycosylation Im
congenital disorder of glycosylation In
congenital disorder of glycosylation Ip
congenital disorder of glycosylation Iq
congenital disorder of glycosylation Ir
congenital disorder of glycosylation It
congenital disorder of glycosylation Iu
congenital disorder of glycosylation Iw
congenital disorder of glycosylation Ix
congenital disorder of glycosylation type IIa
congenital disorder of glycosylation type IIb
congenital disorder of glycosylation type IIc
congenital disorder of glycosylation type IId
congenital disorder of glycosylation type IIe
congenital disorder of glycosylation type IIf
congenital disorder of glycosylation type IIg
congenital disorder of glycosylation type IIh
congenital disorder of glycosylation type IIi
congenital disorder of glycosylation type IIj
congenital disorder of glycosylation type IIk
congenital disorder of glycosylation type IIl
congenital disorder of glycosylation type IIn
congenital disorder of glycosylation type IIo
congenital disorder of glycosylation type IIp
congenital disorder of glycosylation type IIq
congenital dyserythropoietic anemia type Ia
congenital dyserythropoietic anemia type Ib
congenital dyserythropoietic anemia type II
congenital dyserythropoietic anemia type IV
congenital fibrosis of the extraocular muscles 1
congenital fibrosis of the extraocular muscles 2
congenital fibrosis of the extraocular muscles 3A
congenital fibrosis of the extraocular muscles 3C
congenital fibrosis of the extraocular muscles 5
congenital generalized lipodystrophy +
congenital glutamine deficiency
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
congenital heart defects, hamartomas of tongue, and polysyndactyly
congenital hereditary endothelial dystrophy of cornea
congenital hypotrichosis with juvenile macular dystrophy
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism
congenital lactase deficiency
congenital leptin deficiency
congenital limbs-face contractures-hypotonia-developmental delay syndrome
congenital malabsorptive diarrhea 4
congenital merosin-deficient muscular dystrophy 1A +
congenital muscular dystrophy 1B
congenital muscular dystrophy due to integrin alpha-7 deficiency
congenital muscular dystrophy due to LMNA mutation
congenital muscular dystrophy with cataracts and intellectual disability
congenital muscular dystrophy-dystroglycanopathy type A +
congenital myasthenic syndrome 10
congenital myasthenic syndrome 11
congenital myasthenic syndrome 12
congenital myasthenic syndrome 13
congenital myasthenic syndrome 14
congenital myasthenic syndrome 15
congenital myasthenic syndrome 16
congenital myasthenic syndrome 17
congenital myasthenic syndrome 18
congenital myasthenic syndrome 19
congenital myasthenic syndrome 1A
congenital myasthenic syndrome 1B
congenital myasthenic syndrome 20
congenital myasthenic syndrome 21
congenital myasthenic syndrome 22
congenital myasthenic syndrome 2A
congenital myasthenic syndrome 2C
congenital myasthenic syndrome 3A
congenital myasthenic syndrome 3B
congenital myasthenic syndrome 3C
congenital myasthenic syndrome 4A
congenital myasthenic syndrome 4B
congenital myasthenic syndrome 4C
congenital myasthenic syndrome 5
congenital myasthenic syndrome 6
congenital myasthenic syndrome 7
congenital myasthenic syndrome 8
congenital myasthenic syndrome 9
congenital nongoitrous hypothyroidism 1
congenital nongoitrous hypothyroidism 2
congenital nongoitrous hypothyroidism 3
congenital nongoitrous hypothyroidism 4
congenital nongoitrous hypothyroidism 5
congenital nongoitrous hypothyroidism 6
congenital nongoitrous hypothyroidism 7
congenital nongoitrous hypothyroidism 8
congenital secretory chloride diarrhea 1
congenital secretory sodium diarrhea 3
congenital secretory sodium diarrhea 8
congenital stationary night blindness 1B
congenital stationary night blindness 1C
congenital stationary night blindness 1D
congenital stationary night blindness 1E
congenital stationary night blindness 1F
congenital stationary night blindness 1G
congenital stationary night blindness 1H
congenital stationary night blindness autosomal dominant 1
congenital stationary night blindness autosomal dominant 2
congenital stationary night blindness autosomal dominant 3
congenital sucrase-isomaltase deficiency
congenital symmetric circumferential skin creases 1
congenital symmetric circumferential skin creases 2
congenital vertical talus
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
Cornea Guttata with Anterior Polar Cataract
corneal dystrophy-perceptive deafness syndrome
Cornelia de Lange syndrome 1
Cornelia de Lange syndrome 3
Cornelia de Lange syndrome 4
Cornelia de Lange syndrome 6
cortical dysplasia-focal epilepsy syndrome
corticosterone methyloxidase deficiency 1
CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
cortisone reductase deficiency 1
cortisone reductase deficiency 2
cranioectodermal dysplasia +
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1
craniofacial-deafness-hand syndrome
craniolenticulosutural dysplasia
craniotubular dysplasia Ikegawa type
Crouzon syndrome-acanthosis nigricans syndrome
CST3-related cerebral amyloid angiopathy +
cytochrome P450 oxidoreductase deficiency
D-2-hydroxyglutaric aciduria 1
D-2-hydroxyglutaric aciduria 2
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
dehydrated hereditary stomatocytosis 1
dehydrated hereditary stomatocytosis 2
dentinogenesis imperfecta +
dermatopathia pigmentosa reticularis
developmental and epileptic encephalopathy 100
developmental and epileptic encephalopathy 101
developmental and epileptic encephalopathy 102
developmental and epileptic encephalopathy 103
developmental and epileptic encephalopathy 104
developmental and epileptic encephalopathy 105
developmental and epileptic encephalopathy 106
developmental and epileptic encephalopathy 107
developmental and epileptic encephalopathy 108
developmental and epileptic encephalopathy 109
developmental and epileptic encephalopathy 11
developmental and epileptic encephalopathy 110
developmental and epileptic encephalopathy 116
developmental and epileptic encephalopathy 12
developmental and epileptic encephalopathy 13
developmental and epileptic encephalopathy 14
developmental and epileptic encephalopathy 15
developmental and epileptic encephalopathy 16
developmental and epileptic encephalopathy 17
developmental and epileptic encephalopathy 18
developmental and epileptic encephalopathy 19
developmental and epileptic encephalopathy 21
developmental and epileptic encephalopathy 23
developmental and epileptic encephalopathy 24
developmental and epileptic encephalopathy 25
developmental and epileptic encephalopathy 26
developmental and epileptic encephalopathy 27
developmental and epileptic encephalopathy 28
developmental and epileptic encephalopathy 29
developmental and epileptic encephalopathy 3
developmental and epileptic encephalopathy 30
developmental and epileptic encephalopathy 31A
developmental and epileptic encephalopathy 31B
developmental and epileptic encephalopathy 32
developmental and epileptic encephalopathy 33
developmental and epileptic encephalopathy 34
developmental and epileptic encephalopathy 35
developmental and epileptic encephalopathy 37
developmental and epileptic encephalopathy 38
developmental and epileptic encephalopathy 39
developmental and epileptic encephalopathy 4
developmental and epileptic encephalopathy 40
developmental and epileptic encephalopathy 41
developmental and epileptic encephalopathy 42
developmental and epileptic encephalopathy 43
developmental and epileptic encephalopathy 44
developmental and epileptic encephalopathy 45
developmental and epileptic encephalopathy 46
developmental and epileptic encephalopathy 47
developmental and epileptic encephalopathy 48
developmental and epileptic encephalopathy 49
developmental and epileptic encephalopathy 5
developmental and epileptic encephalopathy 50
developmental and epileptic encephalopathy 51
developmental and epileptic encephalopathy 52
developmental and epileptic encephalopathy 53
developmental and epileptic encephalopathy 54
developmental and epileptic encephalopathy 55
developmental and epileptic encephalopathy 56
developmental and epileptic encephalopathy 57
developmental and epileptic encephalopathy 58
developmental and epileptic encephalopathy 59
developmental and epileptic encephalopathy 60
developmental and epileptic encephalopathy 61
developmental and epileptic encephalopathy 62
developmental and epileptic encephalopathy 63
developmental and epileptic encephalopathy 64
developmental and epileptic encephalopathy 65
developmental and epileptic encephalopathy 66
developmental and epileptic encephalopathy 67
developmental and epileptic encephalopathy 68
developmental and epileptic encephalopathy 69
developmental and epileptic encephalopathy 6B
developmental and epileptic encephalopathy 7
developmental and epileptic encephalopathy 70
developmental and epileptic encephalopathy 71
developmental and epileptic encephalopathy 72
developmental and epileptic encephalopathy 73
developmental and epileptic encephalopathy 74
developmental and epileptic encephalopathy 75
developmental and epileptic encephalopathy 76
developmental and epileptic encephalopathy 78
developmental and epileptic encephalopathy 79
developmental and epileptic encephalopathy 80
developmental and epileptic encephalopathy 81
developmental and epileptic encephalopathy 82
developmental and epileptic encephalopathy 83
developmental and epileptic encephalopathy 84
developmental and epileptic encephalopathy 86
developmental and epileptic encephalopathy 87
developmental and epileptic encephalopathy 88
developmental and epileptic encephalopathy 89
developmental and epileptic encephalopathy 91
developmental and epileptic encephalopathy 92
developmental and epileptic encephalopathy 93
developmental and epileptic encephalopathy 95
developmental and epileptic encephalopathy 96
developmental and epileptic encephalopathy 97
developmental and epileptic encephalopathy 98
developmental and epileptic encephalopathy 99
developmental dysplasia of the hip 1
developmental dysplasia of the hip 2
Diamond-Blackfan anemia 1
Diamond-Blackfan anemia 10
Diamond-Blackfan anemia 11
Diamond-Blackfan anemia 12
Diamond-Blackfan anemia 13
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
Diamond-Blackfan anemia 16
Diamond-Blackfan anemia 17
Diamond-Blackfan anemia 18
Diamond-Blackfan anemia 19
Diamond-Blackfan anemia 2
Diamond-Blackfan anemia 20
Diamond-Blackfan anemia 3
Diamond-Blackfan anemia 4
Diamond-Blackfan anemia 5
Diamond-Blackfan anemia 6
Diamond-Blackfan anemia 7
Diamond-Blackfan anemia 8
Diamond-Blackfan anemia 9
diaphyseal medullary stenosis with malignant fibrous histiocytoma
dicarboxylic aminoaciduria
diffuse cystic renal dysplasia
dihydropyrimidinase deficiency
dilated cardiomyopathy 1A
dilated cardiomyopathy 1AA
dilated cardiomyopathy 1B
dilated cardiomyopathy 1C
dilated cardiomyopathy 1CC
dilated cardiomyopathy 1D
dilated cardiomyopathy 1DD
dilated cardiomyopathy 1E
dilated cardiomyopathy 1HH
dilated cardiomyopathy 1II
dilated cardiomyopathy 1JJ
dilated cardiomyopathy 1KK
dilated cardiomyopathy 1LL
dilated cardiomyopathy 1MM
dilated cardiomyopathy 1NN
dilated cardiomyopathy 1R
dilated cardiomyopathy 1S
dilated cardiomyopathy 1U
dilated cardiomyopathy 1V
dilated cardiomyopathy 1X
dilated cardiomyopathy 1Y
dilated cardiomyopathy 2A
dilated cardiomyopathy 2B
dilated cardiomyopathy 2C
dilated cardiomyopathy 2D
dilated cardiomyopathy 2E
dilated cardiomyopathy 2F
dilated cardiomyopathy 2G
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
dimethylglycine dehydrogenase deficiency
diphthamide deficiency syndrome +
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
distal arthrogryposis type 10
distal arthrogryposis type 1A
distal arthrogryposis type 1B
distal arthrogryposis type 2A
distal arthrogryposis type 2B1
distal arthrogryposis type 2B2
distal arthrogryposis type 2B3
distal arthrogryposis type 3
distal arthrogryposis type 5
distal arthrogryposis type 5D
distal arthrogryposis type 7
distal myopathy Tateyama type
distal myopathy with anterior tibial onset
distal myopathy with rimmed vacuoles
dominant optic atrophy plus syndrome
dominant pericentral pigmentary retinopathy
Doyne honeycomb retinal dystrophy
Duane retraction syndrome +
Duane-radial ray syndrome
Dyggve-Melchior-Clausen disease +
dysplastic nevus syndrome
dystonia 22, juvenile-onset
dystonia 28, childhood-onset
dystonia 35, childhood-onset
dystonia 37, early-onset with striatal lesions
dystransthyretinemic hyperthyroxinemia
early-onset dystonia and/or spastic paraplegia
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
ectodermal dysplasia and immunodeficiency 2
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
ectopia lentis with ectopia of pupil
Ehlers-Danlos syndrome arthrochalasia type 1
Ehlers-Danlos syndrome arthrochalasia type 2
Ehlers-Danlos syndrome cardiac valvular type
Ehlers-Danlos syndrome classic type 1
Ehlers-Danlos syndrome classic type 2
Ehlers-Danlos syndrome classic-like 1
Ehlers-Danlos syndrome classic-like 2
Ehlers-Danlos syndrome dermatosparaxis type
Ehlers-Danlos syndrome kyphoscoliotic type 1
Ehlers-Danlos syndrome kyphoscoliotic type 2
Ehlers-Danlos syndrome musculocontractural type 1
Ehlers-Danlos syndrome musculocontractural type 2
Ehlers-Danlos syndrome periodontal type 1
Ehlers-Danlos syndrome periodontal type 2
Ehlers-Danlos syndrome spondylodysplastic type 1
Ehlers-Danlos syndrome spondylodysplastic type 2
Ellis-Van Creveld syndrome +
Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
encephalopathy due to defective mitochondrial and peroxisomal fission 2
endocrine-cerebro-osteodysplasia syndrome
epidermodysplasia verruciformis +
epidermolysis bullosa simplex generalized type +
epidermolysis bullosa simplex localized type +
epidermolysis bullosa simplex Ogna type
epidermolysis bullosa simplex with mottled pigmentation
epidermolysis bullosa simplex with muscular dystrophy
epidermolytic hyperkeratosis 1
epidermolytic palmoplantar keratoderma 1
epidermolytic palmoplantar keratoderma 2
episodic kinesigenic dyskinesia 1
episodic kinesigenic dyskinesia 2
episodic kinesigenic dyskinesia 3
epithelial basement membrane dystrophy
epithelial recurrent erosion dystrophy
erythrokeratodermia variabilis et progressiva 1
erythrokeratodermia variabilis et progressiva 2
erythrokeratodermia variabilis et progressiva 3
erythrokeratodermia variabilis et progressiva 4
erythrokeratodermia variabilis et progressiva 5
erythrokeratodermia variabilis et progressiva 6
exudative vitreoretinopathy +
exudative vitreoretinopathy 1
exudative vitreoretinopathy 3
exudative vitreoretinopathy 5
exudative vitreoretinopathy 6
exudative vitreoretinopathy 7
familial adenomatous polyposis 1
familial adenomatous polyposis 2
familial adenomatous polyposis 3
familial adenomatous polyposis 4
familial adult myoclonic epilepsy 1
familial adult myoclonic epilepsy 2
familial adult myoclonic epilepsy 3
familial adult myoclonic epilepsy 4
familial adult myoclonic epilepsy 5
familial adult myoclonic epilepsy 6
familial adult myoclonic epilepsy 7
familial apolipoprotein A5 deficiency
familial apolipoprotein C-II deficiency
familial Behcet-like autoinflammatory syndrome 1
familial benign fleck retina
familial cold autoinflammatory syndrome 1
familial cold autoinflammatory syndrome 2
familial cold autoinflammatory syndrome 3
familial cold autoinflammatory syndrome 4
familial encephalopathy with neuroserpin inclusion bodies
familial episodic pain syndrome 1
familial episodic pain syndrome 2
familial episodic pain syndrome 3
familial erythrocytosis 1
familial erythrocytosis 2
familial erythrocytosis 3
familial erythrocytosis 5
familial expansile osteolysis
familial focal epilepsy with variable foci +
familial gestational hyperthyroidism
familial hemophagocytic lymphohistiocytosis 1
familial hemophagocytic lymphohistiocytosis 2
familial hemophagocytic lymphohistiocytosis 3
familial hemophagocytic lymphohistiocytosis 4
familial hyperinsulinemic hypoglycemia 1
familial hyperinsulinemic hypoglycemia 2
familial hyperinsulinemic hypoglycemia 3
familial hyperinsulinemic hypoglycemia 4
familial hyperinsulinemic hypoglycemia 5
familial hyperinsulinemic hypoglycemia 6
familial hyperinsulinemic hypoglycemia 7
familial hyperinsulinemic hypoglycemia 8
familial hypertryptophanemia
familial hypocalciuric hypercalcemia +
familial isolated trichomegaly
familial juvenile hyperuricemic nephropathy +
familial lipase maturation factor 1 deficiency
familial lipoprotein lipase deficiency +
familial male-limited precocious puberty
familial medullary thyroid carcinoma
familial multiple lipomatosis
familial partial lipodystrophy type 2
familial partial lipodystrophy type 3
familial partial lipodystrophy type 4
familial partial lipodystrophy type 5
familial partial lipodystrophy type 6
Familial Partial Lipodystrophy Type 7
familial progressive hyperpigmentation with or without hypopigmentation
familial renal glucosuria
familial temporal lobe epilepsy 1
familial temporal lobe epilepsy 2
familial temporal lobe epilepsy 3
familial temporal lobe epilepsy 4
familial temporal lobe epilepsy 5
familial temporal lobe epilepsy 6
familial temporal lobe epilepsy 7
familial temporal lobe epilepsy 8
familial visceral amyloidosis +
Fanconi anemia complementation group A +
Fanconi anemia complementation group C
Fanconi anemia complementation group D1
Fanconi anemia complementation group D2
Fanconi anemia complementation group E
Fanconi anemia complementation group I
Fanconi anemia complementation group L
Fanconi anemia complementation group O
Fanconi anemia complementation group P
Fanconi anemia complementation group Q
Fanconi anemia complementation group R
Fanconi anemia complementation group S
Fanconi anemia complementation group T
Fanconi anemia complementation group U
Fanconi anemia complementation group V
Fanconi anemia complementation group W
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 2
Fanconi renotubular syndrome 3
Fanconi renotubular syndrome 4
Fanconi renotubular syndrome 5
fatal infantile hypertonic myofibrillar myopathy
fetal akinesia deformation sequence syndrome 1
fetal akinesia deformation sequence syndrome 2
fetal akinesia deformation sequence syndrome 3
fetal akinesia deformation sequence syndrome 4
fetal encasement syndrome
fibrodysplasia ossificans progressiva
fibular hypoplasia and complex brachydactyly
focal nonepidermolytic palmoplantar keratoderma 1
focal nonepidermolytic palmoplantar keratoderma 2
focal or diffuse nonepidermolytic palmoplantar keratoderma
focal segmental glomerulosclerosis 1
focal segmental glomerulosclerosis 2
focal segmental glomerulosclerosis 5
focal segmental glomerulosclerosis 6
focal segmental glomerulosclerosis 7
focal segmental glomerulosclerosis 8
focal segmental glomerulosclerosis 9
Foveal Hypoplasia with Anterior Segment Anomalies
frontometaphyseal dysplasia 2
galactose epimerase deficiency
Galloway-Mowat syndrome +
Galloway-Mowat syndrome 1
Galloway-Mowat syndrome 3
Galloway-Mowat syndrome 4
gamma-glutamyl transpeptidase deficiency
Gaucher's disease type III +
gelatinous drop-like corneal dystrophy
geroderma osteodysplasticum
Ghosal hematodiaphyseal syndrome
giant axonal neuropathy 1
giant axonal neuropathy 2
Glaucoma 1, Open Angle, P
glucocorticoid deficiency 1
glucose transporter type 1 deficiency syndrome 2
glucose-galactose malabsorption
glutamate formiminotransferase deficiency
glutamate-cysteine ligase deficiency
glutathione synthetase deficiency of erythrocytes
glutatione synthetase deficiency with 5-oxoprolinuria
glycogen storage disease Ia
glycogen storage disease Ib
glycogen storage disease Ic
glycogen storage disease II +
glycogen storage disease III +
glycogen storage disease IV +
glycogen storage disease IXC
glycogen storage disease V
glycogen storage disease VI
glycogen storage disease VII
glycogen storage disease XV
gnathodiaphyseal dysplasia
Goldberg-Shprintzen syndrome
granular corneal dystrophy +
Greig cephalopolysyndactyly syndrome
GRN-related frontotemporal lobar degeneration with TDP43 inclusions
Grouped Pigmentation of the Macula
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
growth hormone insensitivity syndrome with immune dysregulation 1
growth hormone insensitivity syndrome with immune dysregulation 2
hand-foot-genital syndrome
Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts
Hengel-Maroofian-Schols syndrome
heparin cofactor II deficiency
hepatic venoocclusive disease with immunodeficiency
hereditary angioedema type I
hereditary arterial and articular multiple calcification syndrome +
hereditary breast ovarian cancer syndrome
hereditary diffuse gastric cancer
Hereditary Diffuse Leukoencephalopathy with Spheroids 2
hereditary folate malabsorption
hereditary hemorrhagic telangiectasia +
hereditary mixed polyposis syndrome 2
hereditary multiple exostoses +
hereditary neuropathy with liability to pressure palsies
hereditary night blindness +
Hereditary Optic Atrophies +
hereditary retinal dystrophy +
hereditary sensory and autonomic neuropathy type 1A
hereditary sensory and autonomic neuropathy type 1C
hereditary sensory and autonomic neuropathy type 2A
hereditary sensory and autonomic neuropathy type 2B
hereditary sensory and autonomic neuropathy type 5
hereditary sensory and autonomic neuropathy type 6
hereditary sensory and autonomic neuropathy type 7
hereditary sensory and autonomic neuropathy type 8
hereditary sensory neuropathy type 1B
hereditary sensory neuropathy type 1D
hereditary sensory neuropathy type 1E
hereditary sensory neuropathy type 1F
hereditary sensory neuropathy type 2C
hereditary sensory neuropathy type 4
hereditary spastic paraplegia 10
hereditary spastic paraplegia 11
hereditary spastic paraplegia 12
hereditary spastic paraplegia 13
hereditary spastic paraplegia 14
hereditary spastic paraplegia 15
hereditary spastic paraplegia 17
hereditary spastic paraplegia 18
hereditary spastic paraplegia 19
hereditary spastic paraplegia 23
hereditary spastic paraplegia 24
hereditary spastic paraplegia 25
hereditary spastic paraplegia 26
hereditary spastic paraplegia 27
hereditary spastic paraplegia 28
hereditary spastic paraplegia 29
hereditary spastic paraplegia 31
hereditary spastic paraplegia 32
hereditary spastic paraplegia 33
hereditary spastic paraplegia 35
hereditary spastic paraplegia 36
hereditary spastic paraplegia 37
hereditary spastic paraplegia 38
hereditary spastic paraplegia 39
hereditary spastic paraplegia 3A
hereditary spastic paraplegia 4
hereditary spastic paraplegia 41
hereditary spastic paraplegia 42
hereditary spastic paraplegia 43
hereditary spastic paraplegia 44
hereditary spastic paraplegia 45
hereditary spastic paraplegia 46
hereditary spastic paraplegia 47
hereditary spastic paraplegia 48
hereditary spastic paraplegia 49
hereditary spastic paraplegia 50
hereditary spastic paraplegia 51
hereditary spastic paraplegia 52
hereditary spastic paraplegia 53
hereditary spastic paraplegia 54
hereditary spastic paraplegia 55
hereditary spastic paraplegia 56
hereditary spastic paraplegia 57
hereditary spastic paraplegia 5A
hereditary spastic paraplegia 6
hereditary spastic paraplegia 61
hereditary spastic paraplegia 62
hereditary spastic paraplegia 63
hereditary spastic paraplegia 64
hereditary spastic paraplegia 7
hereditary spastic paraplegia 70
hereditary spastic paraplegia 72A
hereditary spastic paraplegia 73
hereditary spastic paraplegia 74
hereditary spastic paraplegia 75
hereditary spastic paraplegia 76
hereditary spastic paraplegia 77
hereditary spastic paraplegia 78
hereditary spastic paraplegia 79A
hereditary spastic paraplegia 79B
hereditary spastic paraplegia 8
hereditary spastic paraplegia 80
hereditary spastic paraplegia 81
hereditary spastic paraplegia 82
hereditary spastic paraplegia 83
hereditary spastic paraplegia 84
hereditary spastic paraplegia 85
hereditary spastic paraplegia 86
hereditary spastic paraplegia 87
hereditary spastic paraplegia 88
hereditary spastic paraplegia 89
hereditary spastic paraplegia 90A
hereditary spastic paraplegia 90B
hereditary spastic paraplegia 9A
hereditary spastic paraplegia 9B
hereditary spherocytosis type 1
hereditary spherocytosis type 2
hereditary spherocytosis type 3
hereditary spherocytosis type 4
hereditary spherocytosis type 5
high molecular weight kininogen deficiency
High Myopia with Cataract and Vitreoretinal Degeneration
high myopia-sensorineural deafness syndrome
Histiocytic Dermatoarthritis
histiocytosis-lymphadenopathy plus syndrome
HMG-CoA synthase 2 deficiency
homocystinuria-megaloblastic anemia cblE type
homocystinuria-megaloblastic anemia cblG type
hyaline fibromatosis syndrome
Hydrocephalus, Endocardial Fibroelastosis, and Cataracts
hyper IgE recurrent infection syndrome 1
hyper IgE recurrent infection syndrome 2
hyper IgE recurrent infection syndrome 3
hyper IgE recurrent infection syndrome 4
hyperalphalipoproteinemia 1
hyperferritinemia-cataract syndrome
hyperphosphatemic familial tumoral calcinosis +
hypertelorism, microtia, facial clefting syndrome
hypertension and brachydactyly syndrome
Hypertrophic Neuropathy and Cataract
hypervalinemia and hyperleucine-isoleucinemia
hypogonadotropic hypogonadism 10 with or without anosmia
hypogonadotropic hypogonadism 11 with or without anosmia
hypogonadotropic hypogonadism 12 with or without anosmia
hypogonadotropic hypogonadism 13 with or without anosmia
hypogonadotropic hypogonadism 14 with or without anosmia
hypogonadotropic hypogonadism 15 with or without anosmia
hypogonadotropic hypogonadism 16 with or without anosmia
hypogonadotropic hypogonadism 17 with or without anosmia
hypogonadotropic hypogonadism 18 with or without anosmia
hypogonadotropic hypogonadism 19 with or without anosmia
hypogonadotropic hypogonadism 2 with or without anosmia +
hypogonadotropic hypogonadism 20 with or without anosmia
hypogonadotropic hypogonadism 21 with or without anosmia
hypogonadotropic hypogonadism 22 with or without anosmia
hypogonadotropic hypogonadism 23 with or without anosmia
hypogonadotropic hypogonadism 24 without anosmia
hypogonadotropic hypogonadism 3 with or without anosmia
hypogonadotropic hypogonadism 4 with or without anosmia
hypogonadotropic hypogonadism 5 with or without anosmia +
hypogonadotropic hypogonadism 6 with or without anosmia
hypogonadotropic hypogonadism 7 with or without anosmia
hypogonadotropic hypogonadism 8 with or without anosmia
hypogonadotropic hypogonadism 9 with or without anosmia
hypoinsulinemic hypoglycemia with hemihypertrophy
hypomyelinating leukodystrophy 10
hypomyelinating leukodystrophy 11
hypomyelinating leukodystrophy 12
hypomyelinating leukodystrophy 13
hypomyelinating leukodystrophy 14
hypomyelinating leukodystrophy 15
hypomyelinating leukodystrophy 16
hypomyelinating leukodystrophy 17
hypomyelinating leukodystrophy 18
hypomyelinating leukodystrophy 19
hypomyelinating leukodystrophy 2
hypomyelinating leukodystrophy 20
hypomyelinating leukodystrophy 21
hypomyelinating leukodystrophy 22
hypomyelinating leukodystrophy 23
hypomyelinating leukodystrophy 24
hypomyelinating leukodystrophy 25
hypomyelinating leukodystrophy 26
hypomyelinating leukodystrophy 3
hypomyelinating leukodystrophy 4
hypomyelinating leukodystrophy 5
hypomyelinating leukodystrophy 6
hypomyelinating leukodystrophy 7
hypomyelinating leukodystrophy 8
hypomyelinating leukodystrophy 9
hypoparathyroidism-retardation-dysmorphism syndrome
hypophosphatemic nephrolithiasis/osteoporosis 1
hypophosphatemic nephrolithiasis/osteoporosis 2
hypoplastic or aplastic tibia with polydactyly
hypotonia, ataxia, and delayed development syndrome
hypotrichosis-lymphedema-telangiectasia syndrome +
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
idiopathic pulmonary fibrosis
immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
immunodeficiency with hyper IgM type 3
immunodeficiency with hyper IgM type 5
immunodeficiency with hyper-IgM type 2
immunodeficiency-centromeric instability-facial anomalies syndrome +
immunoglobulin alpha deficiency +
inclusion body myopathy and brain white matter abnormalities
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
infantile cerebellar-retinal degeneration
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
infantile liver failure syndrome 1
infantile parkinsonism-dystonia 2
infantile-onset distal myopathy
inflammatory bowel disease 21
inflammatory bowel disease 25
inflammatory bowel disease 28
inflammatory bowel disease 29
inflammatory bowel disease 3
inflammatory bowel disease 30
inflammatory poikiloderma with hair abnormalities and acral keratoses
intellectual developmental disorder with cardiac arrhythmia
intellectual developmental disorder with short stature and behavioral abnormalities
intellectual disability-severe speech delay-mild dysmorphism syndrome
intermediate spinal muscular atrophy
interstitial lung disease 1
interstitial lung disease 2
intracranial berry aneurysm 1
intracranial berry aneurysm 3
intrahepatic cholestasis of pregnancy 1
intrahepatic cholestasis of pregnancy 3
iridogoniodysgenesis syndrome +
Iris Pigment Epithelium Anomalies
ischiocoxopodopatellar syndrome
isolated elevated serum creatine phosphokinase levels
isolated hyperchlorhidrosis
isolated microphthalmia 1
isolated microphthalmia 2
isolated microphthalmia 3
isolated microphthalmia 5
isolated microphthalmia 6
isolated microphthalmia 7
isolated microphthalmia 8
Isolated Microphthalmia with Cataract 1
Isolated Microphthalmia with Cataract 2
Isolated Microphthalmia with Cataract 3
Isolated Microphthalmia with Cataract 4
isolated mitochondrial myopathy
isolated sulfite oxidase deficiency
ITM2B-related cerebral amyloid angiopathy 1
ITM2B-related cerebral amyloid angiopathy 2
Jansen's metaphyseal chondrodysplasia
Johanson-Blizzard syndrome
junctional epidermolysis bullosa Herlitz type +
junctional epidermolysis bullosa non-Herlitz type +
junctional epidermolysis bullosa with pyloric atresia
juvenile amyotrophic lateral sclerosis type 27
juvenile polyposis syndrome +
Karandikar Maria Kamble Syndrome
karyomegalic interstitial nephritis
Kaufman oculocerebrofacial syndrome
Kenny-Caffey syndrome type 1
keratosis palmoplantaris striata 1
keratosis palmoplantaris striata 2
keratosis palmoplantaris striata 3
keratosis pilaris atrophicans +
Kohlschutter-Tonz syndrome
Kozlowski Rafinski Klicharska Syndrome
lacrimoauriculodentodigital syndrome 1
lacrimoauriculodentodigital syndrome 2
lacrimoauriculodentodigital syndrome 3
Larsen-like syndrome B3GAT3 type
late-adult onset retinitis pigmentosa
lateral meningocele syndrome
lattice corneal dystrophy +
Leber congenital amaurosis +
Leber congenital amaurosis 1
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 4
Leber congenital amaurosis 5
Leber congenital amaurosis 6
Leber congenital amaurosis 8
Leber congenital amaurosis 9
Leber congenital amaurosis with early-onset deafness
Leg, Absence Deformity of, with Congenital Cataract
Lenz-Majewski hyperostotic dwarfism
lethal congenital contracture syndrome +
leucine-sensitive hypoglycemia of infancy
leukocyte adhesion deficiency +
leukoencephalopathy with vanishing white matter +
lissencephaly 7 with cerebellar hypoplasia
lissencephaly 9 with complex brainstem malformation
lymphedema-distichiasis syndrome +
lymphoproliferative syndrome 1
lymphoproliferative syndrome 2
lysosomal acid lipase deficiency +
macrocephaly-autism syndrome
mandibuloacral dysplasia type B lipodystrophy
mandibulofacial dysostosis, Guion-Almeida type
Marinesco-Sjogren syndrome
maturity-onset diabetes of the young +
McKusick-Kaufman syndrome
Meesmann corneal dystrophy 1
Meesmann corneal dystrophy 2
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
megaconial type congenital muscular dystrophy
megalencephalic leukoencephalopathy with subcortical cysts 1
megalencephalic leukoencephalopathy with subcortical cysts 2A
megalencephalic leukoencephalopathy with subcortical cysts 2B
melanoma and neural system tumor syndrome
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
methemoglobinemia and ambiguous genitalia
microcephalic osteodysplastic primordial dwarfism type I
microcephalic osteodysplastic primordial dwarfism type II
Microcephalic Primordial Dwarfism Toriello Type
Microcephaly and Chorioretinopathy +
microcephaly and chorioretinopathy 1
microcephaly and chorioretinopathy 2
microcephaly and chorioretinopathy 3
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
microcephaly, seizures, and developmental delay
microcephaly, short stature, and limb abnormalities
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1
microphthalmia with limb anomalies
Microphthalmia, Cataracts, and Iris Abnormalities
microvillus inclusion disease +
Microvillus Inclusion Disease 2
Miller-Dieker lissencephaly syndrome
mismatch repair cancer syndrome +
mitochondrial complex IV deficiency nuclear type 1
mitochondrial complex IV deficiency nuclear type 10
mitochondrial complex IV deficiency nuclear type 11
mitochondrial complex IV deficiency nuclear type 12
mitochondrial complex IV deficiency nuclear type 13
mitochondrial complex IV deficiency nuclear type 14
mitochondrial complex IV deficiency nuclear type 15
mitochondrial complex IV deficiency nuclear type 16
mitochondrial complex IV deficiency nuclear type 17
mitochondrial complex IV deficiency nuclear type 18
mitochondrial complex IV deficiency nuclear type 19
mitochondrial complex IV deficiency nuclear type 2
mitochondrial complex IV deficiency nuclear type 20
mitochondrial complex IV deficiency nuclear type 21
mitochondrial complex IV deficiency nuclear type 22
mitochondrial complex IV deficiency nuclear type 23
mitochondrial complex IV deficiency nuclear type 3
mitochondrial complex IV deficiency nuclear type 4
mitochondrial complex IV deficiency nuclear type 6
mitochondrial complex IV deficiency nuclear type 7
mitochondrial complex IV deficiency nuclear type 8
mitochondrial complex IV deficiency nuclear type 9
mitochondrial complex V (ATP synthase) deficiency nuclear type 4A
mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
mitochondrial complex V (ATP synthase) deficiency nuclear type 5
mitochondrial complex V (ATP synthase) deficiency nuclear type 7
mitochondrial DNA depletion syndrome 1
mitochondrial DNA depletion syndrome 11
mitochondrial DNA depletion syndrome 12a
mitochondrial DNA depletion syndrome 12b
mitochondrial DNA depletion syndrome 13
mitochondrial DNA depletion syndrome 15
mitochondrial DNA depletion syndrome 16
mitochondrial DNA depletion syndrome 16B
mitochondrial DNA depletion syndrome 17
mitochondrial DNA depletion syndrome 18
mitochondrial DNA depletion syndrome 19
mitochondrial DNA depletion syndrome 2
mitochondrial DNA depletion syndrome 20
mitochondrial DNA depletion syndrome 3
mitochondrial DNA depletion syndrome 4B
mitochondrial DNA depletion syndrome 5
mitochondrial DNA depletion syndrome 6
mitochondrial DNA depletion syndrome 8A
mitochondrial DNA depletion syndrome 8b
mitochondrial DNA depletion syndrome 9
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
mitochondrial pyruvate carrier deficiency
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
mitochondrial trifunctional protein deficiency +
Miura type epiphyseal chondrodysplasia
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 3
mosaic variegated aneuploidy syndrome 1
mosaic variegated aneuploidy syndrome 2
mosaic variegated aneuploidy syndrome 3
mosaic variegated aneuploidy syndrome 4
Mousa Al din Al Nassar Syndrome
mucolipidosis III alpha/beta +
mucopolysaccharidosis Ih/s
mucopolysaccharidosis IVA
mucopolysaccharidosis type IIIA
mucopolysaccharidosis type IIIB
mucopolysaccharidosis type IIIC
mucopolysaccharidosis type IIID
mucopolysaccharidosis type IVB
Mullerian aplasia and hyperandrogenism
multicentric carpotarsal osteolysis syndrome
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
multiple congenital anomalies-hypotonia-seizures syndrome 1
multiple congenital anomalies-hypotonia-seizures syndrome 3
multiple congenital anomalies-hypotonia-seizures syndrome 4
multiple cutaneous and mucosal venous malformations
multiple endocrine neoplasia type 1
multiple endocrine neoplasia type 2A +
multiple endocrine neoplasia type 2B +
multiple endocrine neoplasia type 4
multiple epiphyseal dysplasia 1
multiple epiphyseal dysplasia 2
multiple epiphyseal dysplasia 3
multiple epiphyseal dysplasia 4
multiple epiphyseal dysplasia 5
multiple epiphyseal dysplasia 6
multiple epiphyseal dysplasia 7
multiple epiphyseal dysplasia with myopia and deafness
multiple intestinal atresia
multiple mitochondrial dysfunctions syndrome 1
multiple mitochondrial dysfunctions syndrome 2
multiple mitochondrial dysfunctions syndrome 3
multiple mitochondrial dysfunctions syndrome 4
multiple mitochondrial dysfunctions syndrome 5
multiple mitochondrial dysfunctions syndrome 6
multiple synostoses syndrome +
multiple types of congenital heart defects 6
muscular dystrophy-dystroglycanopathy type B1
muscular dystrophy-dystroglycanopathy type B15
muscular dystrophy-dystroglycanopathy type B2
muscular dystrophy-dystroglycanopathy type B3
muscular dystrophy-dystroglycanopathy type B4
muscular dystrophy-dystroglycanopathy type B5
muscular dystrophy-dystroglycanopathy type B6
myoclonic-atonic epilepsy
myopathy with extrapyramidal signs
Myopathy, Cataract, Hypogonadism Syndrome
N-acetylglutamate synthase deficiency
Naegeli-Franceschetti-Jadassohn syndrome
Nagashima-type palmoplantar keratosis
neonatal diabetes mellitus with congenital hypothyroidism
neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
neonatal-onset type II citrullinemia
nephrogenic diabetes insipidus type 2
nephrotic syndrome type 1
nephrotic syndrome type 10
nephrotic syndrome type 11
nephrotic syndrome type 12
nephrotic syndrome type 13
nephrotic syndrome type 14
nephrotic syndrome type 15
nephrotic syndrome type 16
nephrotic syndrome type 17
nephrotic syndrome type 18
nephrotic syndrome type 19
nephrotic syndrome type 2
nephrotic syndrome type 21
nephrotic syndrome type 22
nephrotic syndrome type 23
nephrotic syndrome type 3
nephrotic syndrome type 4
nephrotic syndrome type 5
nephrotic syndrome type 6
nephrotic syndrome type 7
nephrotic syndrome type 8
nephrotic syndrome type 9
Nestor-Guillermo progeria syndrome
neurodegeneration with brain iron accumulation 2A
neurodegeneration with brain iron accumulation 2B
neurodegeneration with brain iron accumulation 3
neurodegeneration with brain iron accumulation 4
neurodegeneration with brain iron accumulation 6
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
neurodevelopmental disorder with involuntary movements
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
neurodevelopmental disorder with midbrain and hindbrain malformations
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
neurofibromatosis-Noonan syndrome
neurogenic scapuloperoneal syndrome Kaeser type
neurohypophyseal diabetes insipidus +
neuronal ceroid lipofuscinosis 1
neuronal ceroid lipofuscinosis 10
neuronal ceroid lipofuscinosis 11
neuronal ceroid lipofuscinosis 13
neuronal ceroid lipofuscinosis 2
neuronal ceroid lipofuscinosis 3
neuronal ceroid lipofuscinosis 4
neuronal ceroid lipofuscinosis 5
neuronal ceroid lipofuscinosis 6A
neuronal ceroid lipofuscinosis 6B
neuronal ceroid lipofuscinosis 7
neuronal ceroid lipofuscinosis 8
neuronal ceroid lipofuscinosis 8 northern epilepsy variant
neuronal ceroid lipofuscinosis 9
neuronal intranuclear inclusion disease
neurooculocardiogenitourinary syndrome
nevoid basal cell carcinoma syndrome 1
Nicolaides-Baraitser syndrome
Nijmegen breakage syndrome +
nonautoimmune hyperthyroidism
nonphotosensitive trichothiodystrophy +
nonphotosensitive trichothiodystrophy 4
nonphotosensitive trichothiodystrophy 6
nonphotosensitive trichothiodystrophy 7
nonsyndromic congenital nail disorder 1
nonsyndromic congenital nail disorder 2
nonsyndromic congenital nail disorder 3
nonsyndromic congenital nail disorder 4
nonsyndromic congenital nail disorder 5
nonsyndromic congenital nail disorder 6
nonsyndromic congenital nail disorder 7
nonsyndromic congenital nail disorder 8
nonsyndromic congenital nail disorder 9
Noonan syndrome with multiple lentigines +
nuclear type mitochondrial complex I deficiency 1
nuclear type mitochondrial complex I deficiency 10
nuclear type mitochondrial complex I deficiency 11
nuclear type mitochondrial complex I deficiency 13
nuclear type mitochondrial complex I deficiency 14
nuclear type mitochondrial complex I deficiency 15
nuclear type mitochondrial complex I deficiency 16
nuclear type mitochondrial complex I deficiency 17
nuclear type mitochondrial complex I deficiency 18
nuclear type mitochondrial complex I deficiency 19
nuclear type mitochondrial complex I deficiency 2
nuclear type mitochondrial complex I deficiency 20
nuclear type mitochondrial complex I deficiency 21
nuclear type mitochondrial complex I deficiency 22
nuclear type mitochondrial complex I deficiency 23
nuclear type mitochondrial complex I deficiency 24
nuclear type mitochondrial complex I deficiency 25
nuclear type mitochondrial complex I deficiency 26
nuclear type mitochondrial complex I deficiency 27
nuclear type mitochondrial complex I deficiency 28
nuclear type mitochondrial complex I deficiency 29
nuclear type mitochondrial complex I deficiency 3
nuclear type mitochondrial complex I deficiency 31
nuclear type mitochondrial complex I deficiency 32
nuclear type mitochondrial complex I deficiency 33
nuclear type mitochondrial complex I deficiency 34
nuclear type mitochondrial complex I deficiency 35
nuclear type mitochondrial complex I deficiency 4
nuclear type mitochondrial complex I deficiency 5
nuclear type mitochondrial complex I deficiency 6
nuclear type mitochondrial complex I deficiency 7
nuclear type mitochondrial complex I deficiency 8
nuclear type mitochondrial complex I deficiency 9
oblique facial clefting 1
ocular albinism with sensorineural deafness
oculocutaneous albinism +
oculopharyngodistal myopathy 1
oculopharyngodistal myopathy 2
oculopharyngodistal myopathy 3
oculopharyngodistal myopathy 4
Oculoskeletodental Syndrome
Oliver-McFarlane syndrome
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects
Ophthalmomandibulomelic Dysplasia
optic disc anomalies with retinal and/or macular dystrophy
orofaciodigital syndrome II
orofaciodigital syndrome III
orofaciodigital syndrome IV
orofaciodigital syndrome IX
orofaciodigital syndrome V
orofaciodigital syndrome X
orofaciodigital syndrome XIV
orofaciodigital syndrome XIX
orofaciodigital syndrome XVI
orofaciodigital syndrome XVII
orofaciodigital syndrome XVIII
orofaciodigital syndrome XX
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
osteogenesis imperfecta type 1
osteogenesis imperfecta type 10
osteogenesis imperfecta type 11
osteogenesis imperfecta type 12
osteogenesis imperfecta type 13
osteogenesis imperfecta type 15
osteogenesis imperfecta type 17
osteogenesis imperfecta type 18
osteogenesis imperfecta type 2 +
osteogenesis imperfecta type 20
osteogenesis imperfecta type 21
osteogenesis imperfecta type 3
osteogenesis imperfecta type 4
osteogenesis imperfecta type 5
osteogenesis imperfecta type 7
osteogenesis imperfecta type 8
osteogenesis imperfecta type 9
osteoporosis-pseudoglioma syndrome
osteosclerotic metaphyseal dysplasia
otospondylomegaepiphyseal dysplasia, autosomal dominant
otospondylomegaepiphyseal dysplasia, autosomal recessive
overhydrated hereditary stomatocytosis
oxoglutarate dehydrogenase deficiency
Paget's disease of bone 2
Paget's disease of bone 3
Paget's disease of bone 4
Paget's disease of bone 5
Paget's disease of bone 6
Pallister-Hall syndrome +
palmoplantar keratoderma and congenital alopecia 2
palmoplantar keratoderma and woolly hair +
palmoplantar keratoderma-deafness syndrome
palmoplantar keratoderma-esophageal carcinoma syndrome
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
pantothenate kinase-associated neurodegeneration
Papillon-Lefevre disease +
paramyotonia congenita of Von Eulenburg
paroxysmal extreme pain disorder
paroxysmal nonkinesigenic dyskinesia 1
paroxysmal nonkinesigenic dyskinesia 2
paroxysmal nonkinesigenic dyskinesia 3
Pavone Fiumara Rizzo Syndrome
Peripapillary Atrophy, Beta Type
permanent neonatal diabetes mellitus +
peroxisomal acyl-CoA oxidase deficiency
Peroxisome biogenesis disorder 10B
Peroxisome biogenesis disorder 11B
peroxisome biogenesis disorder 14B
peroxisome biogenesis disorder 1B
peroxisome biogenesis disorder 2B
peroxisome biogenesis disorder 3B
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder 6B
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 8B
Peroxisome biogenesis disorder 9B
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Peters Anomaly with Cataract
PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
photosensitive trichothiodystrophy 1
photosensitive trichothiodystrophy 2
photosensitive trichothiodystrophy 3
pigmented paravenous chorioretinal atrophy
Pitt-Hopkins-like syndrome 2
plasminogen deficiency type I
platelet-type bleeding disorder 10
platelet-type bleeding disorder 11
platelet-type bleeding disorder 12
platelet-type bleeding disorder 14
platelet-type bleeding disorder 15
platelet-type bleeding disorder 16
platelet-type bleeding disorder 17
platelet-type bleeding disorder 18
platelet-type bleeding disorder 19
platelet-type bleeding disorder 20
platelet-type bleeding disorder 3
platelet-type bleeding disorder 8
platelet-type bleeding disorder 9
poikiloderma with neutropenia
Polycystic Kidney, Cataract, and Congenital Blindness
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +
polycystic liver disease +
polyhydramnios, megalencephaly, and symptomatic epilepsy
pontocerebellar hypoplasia type 11
pontocerebellar hypoplasia type 12
pontocerebellar hypoplasia type 13
pontocerebellar hypoplasia type 14
pontocerebellar hypoplasia type 15
pontocerebellar hypoplasia type 16
pontocerebellar hypoplasia type 1A
pontocerebellar hypoplasia type 1B
pontocerebellar hypoplasia type 1C
pontocerebellar hypoplasia type 1D
pontocerebellar hypoplasia type 1E
pontocerebellar hypoplasia type 1F
pontocerebellar hypoplasia type 2A
pontocerebellar hypoplasia type 2B
pontocerebellar hypoplasia type 2C
pontocerebellar hypoplasia type 2D
pontocerebellar hypoplasia type 2E
pontocerebellar hypoplasia type 2F
popliteal pterygium syndrome +
PORETTI-BOLTSHAUSER SYNDROME
postaxial acrofacial dysostosis
posterior amorphous corneal dystrophy
posterior polymorphous corneal dystrophy 1
posterior polymorphous corneal dystrophy 2
posterior polymorphous corneal dystrophy 4
preaxial polydactyly II +
preaxial polydactyly type IV
Premature Aging, Okamoto Type
primary autosomal recessive microcephaly +
primary ciliary dyskinesia 38
primary ciliary dyskinesia 39
primary ciliary dyskinesia 40
primary ciliary dyskinesia 41
primary ciliary dyskinesia 42
primary ciliary dyskinesia 43
primary ciliary dyskinesia 44
primary ciliary dyskinesia 45
primary coenzyme Q10 deficiency 9
primary congenital glaucoma +
primary failure of tooth eruption
primary ovarian insufficiency 10
primary ovarian insufficiency 11
primary ovarian insufficiency 12
primary ovarian insufficiency 13
primary ovarian insufficiency 14
primary ovarian insufficiency 15
primary ovarian insufficiency 16
primary ovarian insufficiency 18
primary ovarian insufficiency 19
primary ovarian insufficiency 3
primary ovarian insufficiency 5
primary ovarian insufficiency 6
primary ovarian insufficiency 7
primary ovarian insufficiency 8
primary ovarian insufficiency 9
primary pigmented nodular adrenocortical disease 1
primary pigmented nodular adrenocortical disease 2
primary pigmented nodular adrenocortical disease 4
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive +
progressive familial heart block type IA
progressive familial heart block type IB
progressive familial heart block type II
progressive familial intrahepatic cholestasis 1
progressive familial intrahepatic cholestasis 2
progressive familial intrahepatic cholestasis 3
progressive familial intrahepatic cholestasis 4
progressive familial intrahepatic cholestasis 5
progressive leukoencephalopathy with ovarian failure
progressive myoclonus epilepsy 10
progressive myoclonus epilepsy 1A
progressive myoclonus epilepsy 1B
progressive myoclonus epilepsy 3
progressive myoclonus epilepsy 4
progressive myoclonus epilepsy 6
progressive myoclonus epilepsy 7
progressive myoclonus epilepsy 8
progressive myoclonus epilepsy 9
progressive osseous heteroplasia
progressive pseudorheumatoid arthropathy of childhood
proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
proprotein convertase 1/3 deficiency
proteasome-associated autoinflammatory syndrome 1
proteosome-associated autoinflammatory syndrome 2
proteosome-associated autoinflammatory syndrome 3
proteosome-associated autoinflammatory syndrome 4
proteosome-associated autoinflammatory syndrome 5
prothrombin thrombophilia
pseudoxanthoma elasticum +
pulmonary venoocclusive disease 1
pulmonary venoocclusive disease 2
punctate palmoplantar keratoderma type II
punctate palmoplantar keratoderma type III
purine nucleoside phosphorylase deficiency
pyridoxine-dependent epilepsy +
pyruvate kinase deficiency of red cells
Radial Drusen, Autosomal Dominant
recessive dystrophic epidermolysis bullosa
Remitting Chorea with Nystagmus and Cataracts
renal hypomagnesemia 5 with ocular involvement
renal hypomagnesemia 7, with or without dilated cardiomyopathy
retinal arterial tortuosity
retinal cone dystrophy 3B
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
retinal dystrophy with leukodystrophy
Retinal Dystrophy, Early Onset Severe +
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
retinal macular dystrophy +
retinal vasculopathy with cerebral leukodystrophy
retinitis pigmentosa with or without situs inversus
retinitis pigmentosa-deafness syndrome
Retinohepatoendocrinologic Syndrome
Rhegmatogenous Retinal Detachment, Autosomal Dominant
rhizomelic chondrodysplasia punctata +
rigid spine muscular dystrophy 1
Ritscher-Schinzel syndrome 1
RNASET2-deficient cystic leukoencephalopathy
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Rubinstein-Taybi syndrome +
Sandestig-Stefanova syndrome
scalp-ear-nipple syndrome
scapuloperoneal spinal muscular atrophy
Schaap Taylor Baraitser Syndrome
Schimke immuno-osseous dysplasia
Schinzel Giedion syndrome
Schnyder corneal dystrophy
Schopf-Schulz-Passarge syndrome
Schwartz-Jampel syndrome 1
selective pituitary thyroid hormone resistance
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
sepiapterin reductase deficiency
severe combined immunodeficiency with sensitivity to ionizing radiation
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive +
severe congenital neutropenia 3
severe congenital neutropenia 4 +
severe congenital neutropenia 5
severe congenital neutropenia 6
severe congenital neutropenia 7
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
short stature, hearing loss, retinitis pigmentosa, and distinctive facies
short-rib thoracic dysplasia 10 with or without polydactyly
short-rib thoracic dysplasia 11 with or without polydactyly
short-rib thoracic dysplasia 13 with or without polydactyly
short-rib thoracic dysplasia 14 with polydactyly
short-rib thoracic dysplasia 18 with polydactyly
short-rib thoracic dysplasia 19 with or without polydactyly
short-rib thoracic dysplasia 6 with or without polydactyly
short-rib thoracic dysplasia 7 with or without polydactyly
short-rib thoracic dysplasia 8 with or without polydactyly
short-rib thoracic dysplasia 9 with or without polydactyly
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Silverman-Handmaker type dyssegmental dysplasia
Singh Chhaparwal Dhanda Syndrome
Sjogren-Larsson syndrome +
Slavotinek Pike Mills Hurst Syndrome
snowflake vitreoretinal degeneration
solitary median maxillary central incisor
Sorsby's fundus dystrophy
SOST-related sclerosing bone dysplasia
spastic quadriplegic cerebral palsy 3
speech-language disorder-1
spinal muscular atrophy with lower extremity predominant +
spinal muscular atrophy with progressive myoclonic epilepsy
spinal muscular atrophy, Jokela type
split hand-foot malformation 1
split hand-foot malformation 1 with sensorineural hearing loss
split hand-foot malformation 4
split hand-foot malformation 6
spondylocarpotarsal synostosis syndrome
Spondylocostal Dysostosis, Autosomal Recessive +
spondyloepimetaphyseal dysplasia with joint laxity type 1
spondyloepimetaphyseal dysplasia with joint laxity type 2
spondyloepimetaphyseal dysplasia with joint laxity type 3
spondyloepimetaphyseal dysplasia, Genevieve-type
spondyloepimetaphyseal dysplasia, Missouri type
spondyloepimetaphyseal dysplasia, Pakistani type
spondyloepimetaphyseal dysplasia, Sponastrime type
spondyloepimetaphyseal dysplasia, Strudwick type
spondyloepiphyseal dysplasia congenita
spondyloepiphyseal dysplasia Kimberley type
spondyloepiphyseal dysplasia Kondo-Fu type
spondyloepiphyseal dysplasia Maroteaux type
spondyloepiphyseal dysplasia Nishimura type
spondyloepiphyseal dysplasia Stanescu type
spondyloepiphyseal dysplasia tarda with characteristic facies
spondyloepiphyseal dysplasia tarda with intellectual disability
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
spondylometaepiphyseal dysplasia, short limb-hand type
spondylometaphyseal dysplasia corner fracture type
spondylometaphyseal dysplasia Kozlowski type
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
spondylometaphyseal dysplasia Sedaghatian type
spondylometaphyseal dysplasia with cone-rod dystrophy
spondylometaphyseal dysplasia with corneal dystrophy
Spondyloocular Syndrome, Autosomal Recessive
spondyloperipheral dysplasia
Stickler Syndrome, Type I, Nonsyndromic Ocular
STING-associated vasculopathy with onset in infancy
Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndromic microphthalmia 2
syndromic microphthalmia 3
syndromic microphthalmia 5
syndromic microphthalmia 6
syndromic microphthalmia 9
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
TANGO2-related metabolic encephalopathy and arrythmias
tarsal-carpal coalition syndrome +
Tatton-Brown-Rahman syndrome
Teebi hypertelorism syndrome 1
temtamy preaxial brachydactyly syndrome
terminal osseous dysplasia
thiamine-responsive megaloblastic anemia syndrome
Thiel-Behnke corneal dystrophy
thrombocytopenia-absent radius syndrome
thrombophilia due to activated protein C resistance
thrombophilia due to HRG deficiency
thrombophilia due to thrombin defect
thyroid dyshormonogenesis 1
thyroid dyshormonogenesis 2A
thyroid dyshormonogenesis 3
thyroid dyshormonogenesis 4
thyroid dyshormonogenesis 5
thyroid dyshormonogenesis 6
tibial muscular dystrophy
torsion dystonia with onset in infancy
transient bullous dermolysis of the newborn
transient infantile liver failure
transthyretin amyloidosis
Treacher Collins syndrome +
Treacher Collins syndrome 2
Treacher Collins syndrome 3
trichodontoosseous syndrome
trichohepatoenteric syndrome +
trichorhinophalangeal syndrome type I
trichorhinophalangeal syndrome type II
trichorhinophalangeal syndrome type III
TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
tubular aggregate myopathy 1
tubular aggregate myopathy 2
type 1 diabetes mellitus 2
Ullrich congenital muscular dystrophy +
uveal coloboma-cleft lip and palate-intellectual disability
Van den Ende-Gupta syndrome
variant ABeta2M amyloidosis
vascular type Ehlers-Danlos syndrome +
ventriculomegaly - cystic kidney disease
vertebral anomalies and variable endocrine and T-cell dysfunction
vertebral hypersegmentation and orofacial anomalies
visual impairment and progressive phthisis bulbi
vitamin D-dependent rickets type 1A
vitamin D-dependent rickets type 1B
vitamin D-dependent rickets type 2A
vitelliform macular dystrophy +
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Walker-Warburg syndrome +
Weill-Marchesani syndrome +
Wellesley Carmen French Syndrome
Weyers acrofacial dysostosis
Wiedemann-Rautenstrauch syndrome
Williams-Beuren syndrome +
Wolcott-Rallison syndrome
Woodhouse-Sakati syndrome
X-Linked Macular Dystrophy +
Yoon-Bellen neurodevelopmental syndrome
Zonular Cataract and Nystagmus
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