Gene Summary

Name:
platelet-derived growth factor, C polypeptide
Synonyms:
PDGF-C,  1110064L01Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased cardiac stroke volume Pdgfctm1b(EUCOMM)Hmgu HET   Late adult 7.48×10-05
increased monocyte cell number Pdgfctm1b(EUCOMM)Hmgu HET Late adult 4.24×10-05
decreased heart rate Pdgfctm1b(EUCOMM)Hmgu HET   Late adult 1.22×10-05
increased CD4-negative, CD25-positive NK T cell number Pdgfctm1b(EUCOMM)Hmgu HET   Late adult 8.76×10-05
preweaning lethality, incomplete penetrance Pdgfctm1b(EUCOMM)Hmgu HOM   Early adult 0.00254
increased granulocyte number Pdgfctm1b(EUCOMM)Hmgu HET Late adult 3.10×10-05
abnormal seminal vesicle morphology Pdgfctm1b(EUCOMM)Hmgu HET Late adult 0.00
increased red blood cell distribution width Pdgfctm1b(EUCOMM)Hmgu HET Late adult 1.28×10-07
abnormal kidney morphology Pdgfctm1b(EUCOMM)Hmgu HET Late adult 0.00
abnormal lean body mass Pdgfctm1b(EUCOMM)Hmgu HET   Late adult 2.78×10-05
enlarged spleen Pdgfctm1b(EUCOMM)Hmgu HET Late adult 0.00
abnormal liver morphology Pdgfctm1b(EUCOMM)Hmgu HET Late adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

Human diseases caused by Pdgfc mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pdgfc by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Spondylosis, Cervical
Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta OMIM:184300
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Choroideremia
Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,... OMIM:303100
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti... OMIM:618697
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Macular Dystrophy, Retinal, 2
Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal... OMIM:608051
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Localized skin lesion, Milia, Erythematous papule, Atrophic scars, Atypical scarring of skin, Car... ORPHA:79410
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Syngnathia
Cleft palate OMIM:119550
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi... ORPHA:97341
Retinitis Pigmentosa 96
Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:620228
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Diarrhea 9
Villous atrophy OMIM:618168
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Neural Tube Defects, Susceptibility To
Sacral dimple, Anencephaly, Spina bifida occulta, Hydrocephalus, Asymmetry of spinal facet joints... OMIM:182940
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... ORPHA:75377
Isotretinoin Syndrome
Sacral dimple, Depressed nasal bridge, Cleft palate, Spina bifida occulta ORPHA:2305
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Darier Disease
Hypermelanotic macule, Macule, Acrokeratosis, Skin vesicle, Plantar pits, Anal mucosal leukoplakia ORPHA:218
Liberfarb Syndrome
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... OMIM:618889
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Pigmented Paravenous Chorioretinal Atrophy
Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina OMIM:172870
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Diarrhea 5, With Tufting Enteropathy, Congenital
Crypt hyperplasia, Villous atrophy OMIM:613217
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613801
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling OMIM:600977
Sprengel Deformity
Scoliosis, Hemivertebrae, Cervical segmentation defect, Spina bifida occulta OMIM:184400
Retinitis Pigmentosa 76
Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C... OMIM:617123
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Anteverted nares, Scoliosis, Hyperlordosis, Vertebral segmentation defect, ... ORPHA:1797
Trimethylaminuria
Trimethylaminuria, Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Dermatitis Herpetiformis
Delayed eruption of teeth, Macule, Dental enamel pits, Edema, Skin vesicle, Erosion of oral mucos... ORPHA:1656
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hypospadias, Hepatomegaly, Anemia of inadequate production, Hypertrop... OMIM:613673
Acrofacial Dysostosis, Catania Type
Spina bifida occulta, Preauricular pit, Carious teeth, Cleft palate, Prominent nose OMIM:101805
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R... OMIM:613731
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid... ORPHA:67044
Orofacial Cleft 10
Unilateral cleft lip, Unilateral cleft palate OMIM:613705
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle ORPHA:90000
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Acrofacial Dysostosis, Palagonia Type
Supernumerary tooth, High, narrow palate, Spina bifida occulta, Abnormal form of the vertebral bo... ORPHA:1787
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Pruritic Urticarial Papules And Plaques Of Pregnancy
Facial erythema, Erythematous papule, Palmoplantar erythema, Skin vesicle, Erythematous plaque, U... ORPHA:64745
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Monocytosis, Elevated circulating hepa... OMIM:619644
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:619007
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia OMIM:616871
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Lactose Intolerance, Adult Type
Decreased small intestinal mucosa lactase level OMIM:223100
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Retinal pigment epithelial mottling OMIM:300814
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Pemphigus Foliaceus
Scaling skin, Oral ulcer, Abnormal oral mucosa morphology, Serpiginous cutaneous lesion, Skin ves... ORPHA:79481
Familial Benign Chronic Pemphigus
Skin vesicle, Skin erosion, Erythema ORPHA:2841
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Acropectorovertebral Dysplasia
Spina bifida occulta at S1, Abnormal vertebral morphology, Spina bifida occulta at L5 OMIM:102510
Dowling-Degos Disease
Hypermelanotic macule, Palmar pits, Erythematous papule, Hypopigmented macule, Digital pitting sc... ORPHA:79145
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Retinitis Pigmentosa 69
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... OMIM:613750
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Microvillus inclusions, Villous atrophy OMIM:619445
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f... ORPHA:85128
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Cone-Rod Dystrophy 24
Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse... OMIM:620342
Immunodeficiency 15B
Failure to thrive, Monocytosis, Reduced natural killer cell count OMIM:615592
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Skin ulcer, Delayed eruption of teeth, Scoliosis, Abnormality of the dentition, Papule, Gingiviti... ORPHA:2314
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Retinitis Pigmentosa 6
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration OMIM:312612
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Fused cervical vertebrae, Esophageal atresia, Spina bifida occulta, Wide nos... OMIM:619227
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Lichen Planus Pemphigoides
Skin vesicle, Abnormal oral mucosa morphology ORPHA:254478
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the skin, Papule, Skin vesicle, Dermal a... ORPHA:257
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling OMIM:551500
Pyoderma Gangrenosum
Skin ulcer, Atrophic scars, Papule, Inflammation of the large intestine, Skin vesicle ORPHA:48104
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Stargardt Disease
Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions... ORPHA:827
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Abnormal vertebral morphology, Anteverted nares, Cleft palate, Short neck, Thin upper... ORPHA:2015
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Fountain Syndrome
Abnormal palate morphology, Thick lower lip vermilion, Spina bifida occulta, Abnormal form of the... ORPHA:3219
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Nevus flammeus, Spina bifida occulta, Scoliosis, Comedo, Spina bifida ORPHA:64754
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Wells Syndrome
Edema, Skin vesicle ORPHA:901
Neuronal Intranuclear Inclusion Disease
Scoliosis, Spina bifida occulta, Abnormal form of the vertebral bodies ORPHA:2289
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Spondylolisthesis, Spina bifida occulta, Anterior open-bite malocclusion, Dental crow... OMIM:617877
Bietti Crystalline Dystrophy
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc... ORPHA:41751
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Uvula, Bifid
Bifid uvula OMIM:192100
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Bradycardia, Elevated circulating alanine aminotransferas... OMIM:619048
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Spina bifida occulta, Meningocele, Abnormal form of the ... ORPHA:2311
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Chronic Atrial And Intestinal Dysrhythmia
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Decreased body weight, Pul... OMIM:616201
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Polyhydramnios, Anteverted nares, Congenital pyloric atresia, Neonatal death, Aplasia cutis conge... OMIM:612138
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Hennekam-Beemer Syndrome
Long nose, Thick lower lip vermilion, Wide nose, Scoliosis, High palate, Papule, Macule, Subcutan... ORPHA:2135
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc... OMIM:618144
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Iga Pemphigus
Skin erosion, Skin vesicle, Annular cutaneous lesion, Ulcerative colitis, Skin plaque, Oral mucos... ORPHA:555905
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal p... OMIM:251270
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... OMIM:615285
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Sacrococcygeal pilonidal abnormality, Spina bifida occulta ORPHA:2840
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Dominant Beta-Thalassemia
Splenomegaly, Decreased mean corpuscular volume, High-output congestive heart failure, Jaundice, ... ORPHA:231226
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... OMIM:612095
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Rh Deficiency Syndrome
Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatospl... ORPHA:71275
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Cleft Soft Palate
Cleft soft palate OMIM:119570
Achromatopsia
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Holoprosencephaly 4
Median cleft palate, Depressed nasal tip, Depressed nasal bridge, Absent nasal septal cartilage, ... OMIM:142946
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology ORPHA:103907
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli... OMIM:304020
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Anal stenosis, Spina bifida occulta, Hydrocephalus, Scolios... OMIM:613686
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Choriocapillaris at... OMIM:613835
Acrocraniofacial Dysostosis
Advanced eruption of teeth, Spina bifida occulta, Abnormal form of the vertebral bodies, Short ph... ORPHA:949
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Thin vermilion border, Redundant neck skin, Polyhydramnios, Spina bifida occulta, Short philtrum,... OMIM:617360
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Palmoplantar cutis laxa, Cleft palate, Spina bifida occulta OMIM:268850
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Arthrogryposis, Distal, Type 2A
Kyphoscoliosis, Short nose, Polyhydramnios, Spina bifida occulta, Dental crowding, Scoliosis, Whi... OMIM:193700
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy OMIM:612572
Retinitis Pigmentosa 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:180100
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Spina bifida occulta, Delayed eruption of teeth, Scoliosis, Hyperlordosis, B... ORPHA:2780
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a... ORPHA:75564
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Erythema migrans ORPHA:158681
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Rhizomelic Chondrodysplasia Punctata
Scoliosis, Abnormality of the dentition, Dry skin, Spina bifida occulta ORPHA:177
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid... OMIM:618779
Fetal Akinesia Deformation Sequence 4
Polyhydramnios, High palate, Prenatal death, Kyphosis, Neonatal death, Short neck, Wide nasal bridge OMIM:618393
Difference Of Sex Development-Intellectual Disability Syndrome
Thin vermilion border, Short nose, Short philtrum, Spina bifida occulta, Kyphosis, Downturned cor... ORPHA:2983
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Patchy distortion of vertebrae, Scoliosis, Open bite, Mi... ORPHA:1248
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Glycogen Storage Disease Iv
Cirrhosis, Bradycardia, Tubulointerstitial fibrosis, Cardiomyopathy, Ascites, Portal hypertension... OMIM:232500
Hemochromatosis, Type 2B
Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transamin... OMIM:613313
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... OMIM:300835
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Pulmonary... OMIM:612541
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Bradycardia, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cryptorchidism, Mi... OMIM:618815
Bifid Uvula
Cleft lip, Bifid uvula, Submucous cleft soft palate ORPHA:99771
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r... OMIM:617304
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Craniodigital-Intellectual Disability Syndrome
Short nose, Spina bifida occulta, Narrow nasal bridge ORPHA:1514
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Abnormality of the dentition, Angular cheilitis OMIM:613102
Newfoundland Rod-Cone Dystrophy
Bone spicule pigmentation of the retina, Retinal dystrophy OMIM:607476
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Skin tags, High palate, Nasal polyposis, Bifid uvula, Median cleft upper lip OMIM:155145
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosplenomegaly, Sple... OMIM:618963
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia, Spina bi... OMIM:235510
Immunodeficiency 32B
Hepatomegaly, Anemia, Eosinophilia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomega... OMIM:226990
Lowry-Maclean Syndrome
Convex nasal ridge, Cleft palate, Preauricular pit, Delayed eruption of teeth OMIM:600252
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem... OMIM:263300
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Vitreous float... OMIM:618173
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent foveal reflex, Pi... OMIM:204100
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Melena, Elevated circulating hepatic transaminase concentration, Increased mean corpuscul... ORPHA:98870
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti... ORPHA:215
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Tethered cord, Spina bifida occulta OMIM:615281
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Retinitis Pigmentosa 43
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613810
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate, Death in infancy OMIM:258320
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Hepatomegaly, Failure to thrive, Renal hypoplasia, Anisocytosis, Ami... OMIM:604273
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:600105
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Bradycardia, Cardiac arrest, Hypertrophic cardiomyopathy, Failure to thrive OMIM:618235
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Pai Syndrome
Midline defect of the nose, Skin tags, Encephalocele, Nasal polyposis, Abnormal oral frenulum mor... ORPHA:1993
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Acrofacial Dysostosis, Catania Type
Tessier cleft, Abnormal palate morphology, Short nose, Spina bifida occulta, Abnormality of the d... ORPHA:1786
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Elevated circulating hepatic tran... ORPHA:79301
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613581
Craniofacial Microsomia 2
Submucous cleft palate, Bifid uvula, Dermal sinus tract, Skin tags OMIM:620444
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Immunodeficiency 21
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... OMIM:614172
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr... OMIM:620565
Oculocutaneous Albinism Type 4
Optic nerve misrouting, Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris ... ORPHA:79435
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Immunodeficiency 104
Hepatomegaly, Lymphadenopathy, Failure to thrive secondary to recurrent infections, T lymphocytop... OMIM:608971
Three M Syndrome 1
Increased vertebral height, Thick lower lip vermilion, Spina bifida occulta, Anteverted nares, Hy... OMIM:273750
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Pigmentar... OMIM:312600
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Cleft palate, Bulbous nose, Wide nasal bridge OMIM:612913
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Leukocyte Adhesion Deficiency Type Ii
Narrow palate, Palpebral edema, Severe periodontitis, Premature loss of teeth, Long upper lip, Gi... ORPHA:99843
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
White Forelock With Malformations
Abnormal palate morphology, Deep philtrum, Spina bifida occulta ORPHA:2475
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Orofaciodigital Syndrome Xix
Narrow palate, Cleft soft palate, Bifid nasal tip, Thick nasal alae, High palate, Microdontia, Mi... OMIM:620107
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short nose, Spina bifida occulta, Anteverted nares, Downturned corners of mouth, Thick vermilion ... ORPHA:1185
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Anemia, Lymphadenopathy, Splenomegaly, Weight loss, Abnorm... ORPHA:100024
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Weight loss ORPHA:52416
Orotic Aciduria
Oroticaciduria, Hematuria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Cleidocranial Dysplasia
Supernumerary tooth, High, narrow palate, Spina bifida occulta, Delayed eruption of teeth, Abnorm... ORPHA:1452
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Wild Type Attr Amyloidosis
Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Renal insufficiency, Hy... ORPHA:330001
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... OMIM:614022
Carey-Fineman-Ziter Syndrome 2
High, narrow palate, Increased overbite, Dental crowding, Scoliosis, Abnormal nasal septum morpho... OMIM:619941
Microcephaly 30, Primary, Autosomal Recessive
Cleft soft palate, Increased nuchal translucency, Cafe-au-lait spot, Pierre-Robin sequence, Choan... OMIM:620183
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Spleno... OMIM:617514
Czeizel-Losonci Syndrome
Spina bifida occulta, Hydrocephalus, High palate, Myelomeningocele, Spina bifida, Tracheoesophage... ORPHA:2437
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Retinitis Pigmentosa 25
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess... OMIM:602772
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Spina bifida occulta ORPHA:230839
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Pigmentary retinopathy OMIM:275400
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Anencephaly 2
Bifid nose, Cleft maxillary alveolar ridge, Median cleft palate, Median cleft upper lip OMIM:619452
Lipoyltransferase 1 Deficiency
Decreased liver function, Elevated circulating hepatic transaminase concentration, Bradycardia, P... OMIM:616299
Porphyria Variegata
Localized skin lesion, Ileus, Milia, Back pain, Skin vesicle, Skin erosion ORPHA:79473
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Medi... OMIM:619802
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ... OMIM:145350
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Carpenter Syndrome 1
Sacral dimple, Spina bifida occulta, Scoliosis, High palate, Persistence of primary teeth, Preaur... OMIM:201000
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Organic aciduria, Poikilocytosis, Sid... OMIM:301310
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Cone-Rod Dystrophy 8
Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re... OMIM:605549
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Hemochromatosis, Type 2A
Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Splenomegaly, Arr... OMIM:602390
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Sandhoff Disease
Congestive heart failure, Failure to thrive, Splenomegaly, Hepatomegaly ORPHA:796
Distal Deletion 10Q
Short nose, Spina bifida occulta, High palate, Anal atresia, Cleft palate, Prominent nasal bridge... ORPHA:96148
Sepsis In Premature Infants
Decreased liver function, Jaundice, Anemia, Hepatomegaly, Bradycardia, Oliguria, Decreased body w... ORPHA:90051
Mucopolysaccharidosis, Type Ix
Lumbar scoliosis, Submucous cleft hard palate, Bifid uvula, Depressed nasal bridge OMIM:601492
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema, High palate, Choanal atresia OMIM:613611
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Scoliosis, Spina bifida occulta OMIM:618736
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ... ORPHA:2919
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin... OMIM:121300
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenom... OMIM:614480
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Bilateral cleft palate, Non-midline cleft of the upper lip, Depressed nasal ridge, T... ORPHA:2003
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:618195
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level OMIM:223000
Osteopathia Striata With Cranial Sclerosis
Anal stenosis, Thick lower lip vermilion, Polyhydramnios, Spina bifida occulta, Hydrocephalus, De... OMIM:300373
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bra... OMIM:212138
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor OMIM:615973
Becker Nevus Syndrome
Scoliosis, Kyphosis, Spina bifida occulta ORPHA:64755
Dyskeratosis Congenita
Hypopigmented skin patches, Hypermelanotic macule, Skin ulcer, Periodontitis, Scoliosis, Aplasia/... ORPHA:1775
Townes-Brocks Syndrome 2
Anal atresia, Scoliosis, Rectovaginal fistula, Spina bifida occulta OMIM:617466
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Oculoauriculofrontonasal Syndrome
Skin tags, Encephalocele, Wide nose, Scoliosis, Bifid nasal tip, Narrow mouth, Preauricular skin ... ORPHA:398156
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Polyhydramnios, Sacral dimple, Spina bifida occulta, Scoliosis, Kyphosis OMIM:618291
Robinow Syndrome, Autosomal Dominant 2
Kyphoscoliosis, Short nose, Sacral dimple, Cleft soft palate, Triangular mouth, Dental crowding, ... OMIM:616331
Bamforth-Lazarus Syndrome
Polyhydramnios, Cleft palate, Bilateral choanal atresia OMIM:241850
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Prolonged QT interval, Anemia, Elevated circulating hepatic transam... ORPHA:398124
Autosomal Recessive Multiple Pterygium Syndrome
Orofacial cleft, Spina bifida occulta, Scoliosis, Vertebral segmentation defect, High palate, Apl... ORPHA:2990
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Microphthalmia, Syndromic 12
Intestinal malrotation, Neonatal death, Broad nasal tip, Cleft palate, Wide nasal bridge OMIM:615524
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Limb Body Wall Complex
Short umbilical cord, Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus, Abnormalit... ORPHA:2369
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Spina bifida occulta OMIM:169550
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Sple... OMIM:269840
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Popliteal Pterygium Syndrome
Spina bifida occulta, Cleft upper lip, Bifid uvula, Cleft palate, Fibrous syngnathia, Lower lip pit OMIM:119500
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Parietal Foramina 1
Cleft upper lip, Aplasia cutis congenita of scalp, Cleft palate, Encephalocele OMIM:168500
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Epistaxis, Sple... OMIM:314050
Eem Syndrome
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation ORPHA:1897
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Vasculitis, Neutropenia in pre... OMIM:601859
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du... OMIM:619079
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Cleft soft palate, Prominent nasal tip, Thick nasal alae, Depressed nasal tip, Br... ORPHA:293725
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Normochromic anemia, Bradycardia, Cholelithiasis, Hypertrophic card... OMIM:618775
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom... ORPHA:882
Beta-Thalassemia Intermedia
Decreased liver function, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, Hy... ORPHA:231222
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Acute Generalized Exanthematous Pustulosis
Scaling skin, Purpura, Cheilitis, Skin vesicle, Facial edema ORPHA:293173
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Pseudo-Torch Syndrome 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bradycardia, Ascites, Abno... OMIM:617397
Microvillus Inclusion Disease
Abnormal small intestinal villus morphology, Villous atrophy ORPHA:2290
Craniosynostosis 6
Scoliosis, Spina bifida occulta OMIM:616602
Cone-Rod Dystrophy 10
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:610283
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatomegaly, Iron deficiency anemia, Elevated circulating hepatic transaminase concent... OMIM:616278
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc... OMIM:618278
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Secondary Short Bowel Syndrome
Steatorrhea, Aganglionic megacolon, Small intestinal dysmotility, Enterocolitis, Volvulus, Abnorm... ORPHA:95427
Erythrocytosis, Familial, 1
Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo... OMIM:133100
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly, Weight loss ORPHA:66661
Van Esch-O'Driscoll Syndrome
Short nose, Sacral dimple, Esophageal atresia, Spina bifida occulta, Scoliosis, Tracheoesophageal... OMIM:301030
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Epistaxis, Hepatosplenomegaly... OMIM:612840
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Retinitis Pigmentosa 3
Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:300029
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Bifid uvula, Unilateral cleft lip, Cleft palate ORPHA:2736
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly, Weight loss, Aminoaciduria ORPHA:79238
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Gray Platelet Syndrome
Thrombocytopenia, Epistaxis, Splenomegaly ORPHA:721
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Ambiguous genitalia, male, Bradycardia, Partial development of the penile shaft, Dysplastic teste... OMIM:608800
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Failure to thrive, Splenomegaly, Aminoaciduria OMIM:230350
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Babesiosis
Congestive heart failure, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hem... ORPHA:108
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Hypertension, Cholestasis, Nephrotic syndrome, Proteinuria, Splenomegaly... OMIM:105200
Dubowitz Syndrome
Rectal prolapse, Sacral dimple, Anal stenosis, Spina bifida occulta, Delayed eruption of teeth, H... ORPHA:235
Necrotizing Enterocolitis
Neutropenia, Bradycardia, Hypotension, Leukocytosis, Ascites, Thrombocytopenia, Peritonitis, Smal... ORPHA:391673
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Robinow Syndrome, Autosomal Recessive 2
Short nose, Triangular mouth, Cleft soft palate, Anteverted nares, Gingival overgrowth, Abnormali... OMIM:618529
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
High palate, Choanal atresia, Tooth agenesis, Cleft palate, Abnormality of the sense of smell, Ap... ORPHA:1135
Oculocutaneous Albinism Type 2
Blue irides, Optic nerve misrouting, Iris transillumination defect, Macular hypopigmentation, Hyp... ORPHA:79432
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Spina bifida occulta OMIM:618060
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Bamforth-Lazarus Syndrome
Polyhydramnios, Cleft palate, Choanal atresia ORPHA:1226
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola... OMIM:600132
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L... OMIM:603909
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... OMIM:615234
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Villous atrophy OMIM:614328
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Alpha-Thalassemia
Anisopoikilocytosis, Congestive heart failure, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis... ORPHA:846
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Ascites, Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly, Small for ges... OMIM:614702
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
8Q22.1 Microdeletion Syndrome
Abnormal nostril morphology, Abnormality of the dentition, Depressed nasal ridge, Lack of skin el... ORPHA:178303
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Larsen Syndrome
Beaking of vertebral bodies, Spondylolysis, Spina bifida occulta, Scoliosis, Cleft upper lip, Cle... OMIM:150250
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d... ORPHA:364055
3Mc Syndrome
Orofacial cleft, Caudal appendage, Spina bifida occulta, Scoliosis, Hyperlordosis, Downturned cor... ORPHA:293843
Sweet Syndrome
Erythematous papule, Skin nodule, Inflammation of the large intestine, Skin vesicle, Erythematous... ORPHA:3243
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Vasculitis, Leukocytosis, Splenomegaly ORPHA:37748
Zimmermann-Laband Syndrome 1
Spina bifida occulta, Delayed eruption of teeth, Short philtrum, Gingival fibromatosis, Scoliosis... OMIM:135500
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hem... ORPHA:848
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Ascites, Epistaxis, Splenomegaly, Leukopenia, Diffuse alv... ORPHA:99827
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Lenz-Majewski Hyperostotic Dwarfism
Spina bifida occulta, Hemivertebrae, Abnormality of the dentition, Choanal atresia, Cutis laxa, T... OMIM:151050
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Nephronophthisis 19
Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Splenomeg... OMIM:616217
Birk-Barel Syndrome
Sacral dimple, Short philtrum, High palate, Bifid uvula, Submucous cleft soft palate, Tented uppe... OMIM:612292
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Multiple Epiphyseal Dysplasia, Lowry Type
Scoliosis, Cleft hard palate, Broad nasal tip ORPHA:166016
Sjögren-Larsson Syndrome
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... ORPHA:816
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Enhanced S-Cone Syndrome
Vitreoretinopathy, Macular edema, Pigmentary retinopathy, Retinoschisis OMIM:268100
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Retinitis Punctata Albescens
Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina... ORPHA:52427
Retinitis Pigmentosa 60
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:613983
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Failure to thrive, Thrombocytopenia, Splenome... ORPHA:79312
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:613464
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp... ORPHA:79434
Retinitis Pigmentosa 72
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro... OMIM:616469
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Enlarged me... OMIM:209950
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Sickle Cell Disease
Jaundice, Hematuria, Hepatomegaly, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis... OMIM:603903
Wolman Disease
Failure to thrive, Hepatomegaly, Acute hepatic failure, Splenomegaly OMIM:620151
Congenital Tufting Enteropathy
Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fecal osmolality, Abnormal sma... ORPHA:92050
Peroxisomal Acyl-Coa Oxidase Deficiency