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Gene: Peds1 MGI:2142624

Gene Summary

Name:

plasmanylethanolamine desaturase 1

Synonyms:

Tmem189

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
decreased hemoglobin content	Peds1^{tm1a(KOMP)Wtsi}	HOM	Early adult	9.46×10^-08
abnormal incisor color	Peds1^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.40×10^-07
decreased circulating fructosamine level	Peds1^{tm1a(KOMP)Wtsi}	HOM	Early adult	7.66×10^-06
decreased erythrocyte cell number	Peds1^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.82×10^-09
decreased circulating calcium level	Peds1^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.62×10^-06
abnormal eye morphology	Peds1^{tm1a(KOMP)Wtsi}	HOM	Early adult	8.53×10^-05
decreased bone mineral density	Peds1^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.79×10^-05
increased mean platelet volume	Peds1^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.08×10^-19
absent pinna reflex	Peds1^{tm1a(KOMP)Wtsi}	HOM	Early adult	9.36×10^-05
abnormal retina pigmentation	Peds1^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.35×10^-06
increased mean corpuscular volume	Peds1^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.39×10^-08
abnormal retina morphology	Peds1^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.25×10^-06
decreased hematocrit	Peds1^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.06×10^-07
decreased lean body mass	Peds1^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.18×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	50% (1 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	Ambiguous
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	Not available
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	100% (2 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

XRay Images Whole Body Lateral Orientation

14 Images

View images

Legacy Phenotype Associated Images

Tmem189^{tm1a(KOMP)Wtsi}
WT, Male, WTSI

Tmem189^{tm1a(KOMP)Wtsi}
HOM, Male, WTSI

View all 125 images

Tmem189^{tm1a(KOMP)Wtsi}
eye, abnormal retinal pigmentation, HOM, Male, WTSI

Tmem189^{tm1a(KOMP)Wtsi}
eye, abnormal retinal pigmentation, HOM, Female, WTSI

Tmem189^{tm1a(KOMP)Wtsi}
eye, abnormal retinal pigmentation, HOM, Male, WTSI

Tmem189^{tm1a(KOMP)Wtsi}
abnormal retinal pigmentation, HOM, Male, WTSI

View all 21 images

Tmem189^{tm1a(KOMP)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Peds1 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.

Human diseases associated with Peds1 (0 diseases)
Human diseases predicted to be associated with Peds1 (717 diseases)

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

The table below shows human diseases predicted to be associated to Peds1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency	OMIM:614278
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri...	OMIM:205950
Regional Odontodysplasia	Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de...	ORPHA:83450
Nephronophthisis	Abnormality of retinal pigmentation, Anemia	ORPHA:655
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Increased mean platelet volume, Thrombocytopenia, Enamel hypomineralizati...	ORPHA:494444
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Amelogenesis Imperfecta	Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati...	ORPHA:88661
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl...	OMIM:619271
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Dentinogenesis Imperfecta	Fragile teeth, Grayish enamel, Joint hypermobility, Yellow-brown discoloration of the teeth, Sele...	ORPHA:49042
Albers-Schönberg Osteopetrosis	Optic atrophy, Anemia, Hypocalcemia, Abnormal leukocyte morphology, Arthritis, Recurrent fracture...	ORPHA:53
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:300946
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Anemia, Photoreceptor layer loss on macular OCT, Retinal...	OMIM:616959
Bone Marrow Failure Syndrome 6	Osteopenia, Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the tongue, Per...	OMIM:618849
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Diamond-Blackfan Anemia 6	Retrognathia, Macrocytic anemia, Tracheomalacia, Increased mean corpuscular volume, Persistence o...	OMIM:612561
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Decreased skull ossification, Thrombocytopenia, Abnormal hemoglobin, Melanocytic nevus	ORPHA:3319
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu...	OMIM:616689
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Anemia, Pancytopenia, Inc...	OMIM:259700
Progressive Familial Intrahepatic Cholestasis	Reduced bone mineral density, Hypocalcemia, Failure to thrive, Splenomegaly, Abnormality of throm...	ORPHA:172
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Thick upper lip vermilion, Macrocytic anemia, Neutropenia	OMIM:612563
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Oslam Syndrome	Increased mean corpuscular volume, Carious teeth, Abnormality of neutrophils, Radioulnar synostosis	ORPHA:2760
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine...	ORPHA:98870
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa...	OMIM:620486
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Sorsby Pseudoinflammatory Fundus Dystrophy	Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio...	ORPHA:59181
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ...	OMIM:155100
Choroidal Dystrophy, Central Areolar, 1	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Choroideremia	Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,...	OMIM:303100
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia, Pigmentary retinopathy, Intention tremor	OMIM:266130
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Jalili Syndrome	Bone spicule pigmentation of the retina, Yellow-brown discoloration of the teeth, Cone/cone-rod d...	OMIM:217080
Bone Marrow Failure Syndrome 3	Aplastic anemia, Reduced bone mineral density, Microdontia, Joint hypermobility, Neutropenia, Acu...	OMIM:617052
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Bernard-Soulier Syndrome	Giant platelets, Gingival bleeding, Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-...	OMIM:231200
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hypophosphatemia, Osteomalacia	ORPHA:89937
Liberfarb Syndrome	Bone spicule pigmentation of the retina, Delayed epiphyseal ossification, Retinal degeneration, R...	OMIM:618889
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Central Areolar Choroidal Dystrophy	Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse...	ORPHA:75377
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, T lymphocytopenia	DECIPHER:16
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig...	OMIM:613830
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Alpha-Heavy Chain Disease	Hypocalcemia, Anemia, Splenomegaly	ORPHA:100025
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio...	OMIM:206100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Abnormal bone structure, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Jalili Syndrome	Optic atrophy, Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morph...	ORPHA:1873
Leber Congenital Amaurosis 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:612712
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Cleft Lip-Retinopathy Syndrome	Retinopathy, Non-midline cleft of the upper lip, Abnormality of retinal pigmentation	ORPHA:1995
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Obesity, Bone spicule pigmentation of the retina, Rod-cone ...	OMIM:615990
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Oste...	ORPHA:398063
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin...	OMIM:210250
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hypoalbuminemi...	OMIM:617021
Myh9-Related Disease	Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc...	ORPHA:182050
Pelger-Huet Anomaly	Giant platelets, Gingival overgrowth, Abnormality of the dentition, Median cleft palate, Hyposegm...	OMIM:169400
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind...	OMIM:617443
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi...	ORPHA:97341
Kenny-Caffey Syndrome, Type 1	Calvarial osteosclerosis, Anemia, Hypocalcemia, Decreased skull ossification, Carious teeth, Hypo...	OMIM:244460
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua...	OMIM:180210
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis...	ORPHA:232
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased size of the mandible, Increased mean platelet volume, Thrombocytopenia, Smooth philtrum	OMIM:300048
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Hypochromia, Cafe-au-lait spot, Sideroblastic anemia, Poikilocytosis, Elevated hepatic ir...	OMIM:615234
Eem Syndrome	Macular dystrophy, Widely spaced teeth, Selective tooth agenesis, Microdontia, Retinopathy, Cario...	ORPHA:1897
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ristocetin-induced platelet aggregation, Gingival bleeding, Impaired ADP-induced platele...	OMIM:153670
Macular Dystrophy, Retinal, 2	Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal...	OMIM:608051
X-Linked Agammaglobulinemia	Hypopigmented skin patches, Anemia, Hypocalcemia, Arthritis, Glossoptosis, Sinusitis, Failure to ...	ORPHA:47
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Slc35A1-Cdg	Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia	ORPHA:238459
Kenny-Caffey Syndrome, Type 2	Anemia, Transient hypophosphatemia, Retinal calcification, Increased bone mineral density, Hypoca...	OMIM:127000
Bothnia Retinal Dystrophy	Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f...	ORPHA:85128
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Osteopor...	ORPHA:2169
Dyskeratosis Congenita, Autosomal Dominant 1	Premature graying of hair, Aplastic anemia, Anemia, Increased mean corpuscular volume, Premature ...	OMIM:127550
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204700
Majeed Syndrome	Anemia of inadequate production, Failure to thrive, Hepatosplenomegaly, Flexion contracture, Decr...	OMIM:609628
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Widely spaced teeth, Retinal dystrophy, Attenuation of r...	OMIM:616108
Oligodontia	Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age...	ORPHA:99798
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Hypokalemia, Reticulocytosis, Failure to thrive, Hepatosplenomegaly, Decreased mean corp...	OMIM:611590
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Hypocalcemic seizures, Delayed eruption of teeth, Delayed epiphyseal ossification, Hypoc...	ORPHA:289157
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Mandibular prognathia, High palate, Increased mean platelet volume, Wide m...	OMIM:620475
Amelogenesis Imperfecta, Type Ic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204650
Pseudohypoparathyroidism Type 1B	Hypocalcemic seizures, Delayed eruption of teeth, Increased bone mineral density, Diaphyseal scle...	ORPHA:94089
Beta-Thalassemia, Dominant Inclusion Body Type	Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc...	OMIM:603902
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Cranial hyperostosis, Osteopetrosis, Anemia, Hypochromic microcytic anemia, Pancyt...	OMIM:259720
Amelo-Onycho-Hypohidrotic Syndrome	Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A...	ORPHA:1028
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic seizures, Calvarial osteosclerosis, Hypocalcemia, Decreased skull ossification, Cort...	ORPHA:93324
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Splen...	OMIM:616860
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane...	OMIM:277410
Amelogenesis Imperfecta, Type Ih	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:616221
Ramon Syndrome	Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morpholog...	ORPHA:3019
Overhydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Stomatocyto...	OMIM:185000
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Retrognathia, Abnormal palate morphology, Heterochromia iridis, Carious teeth, Abnormality of ret...	ORPHA:1390
Takenouchi-Kosaki Syndrome	Optic atrophy, Widely spaced teeth, Short philtrum, Camptodactyly, Increased mean platelet volume...	OMIM:616737
Filippi Syndrome	Optic atrophy, Thin vermilion border, Short philtrum, Serrated incisors, Decreased body weight, M...	OMIM:272440
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Hypokalemia, Hyperpigmentation of the skin, Glossitis, Cachexia, Hypocalcemia, Hypomagnes...	OMIM:175500
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Congenital Toxoplasmosis	Failure to thrive in infancy, Thrombocytopenia, Abnormality of retinal pigmentation, Anemia	ORPHA:858
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration	OMIM:615361
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Giant platelets, Anemia, Glossoptosis, High palate, Narrow mouth, Camptodactyly, Micr...	OMIM:611209
Hypophosphatasia	Anemia, Craniosynostosis, Abnormality of the dentition, Hypercalcemia, Failure to thrive in infan...	ORPHA:436
Ataxia-Tapetoretinal Degeneration Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
16Q24.3 Microdeletion Syndrome	Solitary median maxillary central incisor, Increased mean corpuscular volume, Optic nerve hypopla...	ORPHA:261250
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Bifid uvula, Cleft palate, Hyporeflective spaces on m...	ORPHA:506353
Pseudohypoparathyroidism Type 2	Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Laryngeal dystonia	ORPHA:94090
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, High palate, Failure to thrive, Micrognathia, Sideroblastic anemia, Microcyt...	OMIM:600462
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Retinitis Pigmentosa 57	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:613582
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar	OMIM:114700
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Spinocerebellar Ataxia, Autosomal Recessive 29	Generalized dystonia, Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypophosphatemia, Hypocalcemia	OMIM:619073
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret...	OMIM:607921
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Osteoporosis, Cleft palate, Neu...	OMIM:612562
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Cofs Syndrome	Optic atrophy, Everted lower lip vermilion, Joint stiffness, Camptodactyly of finger, Micrognathi...	ORPHA:1466
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Bone cyst, Anemia	ORPHA:2668
Shwachman-Diamond Syndrome	Aplastic anemia, Macrocytic anemia, Chronic neutropenia, Sinusitis, Leukopenia, Impaired neutroph...	ORPHA:811
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration	OMIM:615883
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly	OMIM:619658
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R...	OMIM:613731
Osteopetrosis With Renal Tubular Acidosis	Retrognathia, Retinal atrophy, Leukopenia, Abnormal retinal morphology, Optic atrophy, Tooth malp...	ORPHA:2785
Achromatopsia	Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ...	ORPHA:49382
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia	OMIM:616176
Juvenile Paget Disease	Optic atrophy, Cranial hyperostosis, Hyperuricemia, Abnormality of the dentition, Osteoporosis, A...	ORPHA:2801
Bietti Crystalline Dystrophy	Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc...	ORPHA:41751
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia	OMIM:104510
Cohen Syndrome	Optic atrophy, Childhood-onset truncal obesity, Bone spicule pigmentation of the retina, High, na...	OMIM:216550
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling	OMIM:600977
Intermediate Osteopetrosis	Anemia, Optic atrophy from cranial nerve compression, Abnormality of bone mineral density, Recurr...	ORPHA:210110
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth	OMIM:615887
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Decreased transferrin saturation, Reticulocytopenia, Cafe-au-lait sp...	ORPHA:300298
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Abnormality of the dentition, Neonatal hyperbilirubinemia, Retinal degeneration, Small for gestat...	ORPHA:3363
Retinitis Pigmentosa 11	Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore...	OMIM:600138
Celiac Disease, Susceptibility To, 1	Rickets, Recurrent aphthous stomatitis, Macrocytic anemia, Iron deficiency anemia, Stomatitis, Hy...	OMIM:212750
Cone-Rod Dystrophy 24	Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse...	OMIM:620342
Amelogenesis Imperfecta, Type If	Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color	OMIM:616270
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling	OMIM:551500
Trichothiodystrophy 6, Nonphotosensitive	Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemoglobin, Decreased me...	OMIM:616943
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Hypocalcemic seizures, Delayed eruption of teeth, Delayed epiphyseal ossification, Hypoc...	OMIM:264700
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Retinopathy, Pigmentary retinopathy	OMIM:610951
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal p...	OMIM:251270
Aceruloplasminemia	Increased circulating ferritin concentration, Hypochromic microcytic anemia, Torticollis, Decreas...	ORPHA:48818
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Retinitis Pigmentosa 47	Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613758
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop...	OMIM:613750
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Hypocalcemia, Osteoporosis, Enamel hypoplasia, Obesity, Hypocalcemic t...	OMIM:612462
Multiple Mitochondrial Dysfunctions Syndrome 5	Elevated circulating creatine kinase concentration, Pigmentary retinopathy	OMIM:617613
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hypercholesterolemia	OMIM:612526
Beta-Thalassemia Intermedia	Osteopenia, Reduced bone mineral density, Abnormality of iron homeostasis, Anemia of inadequate p...	ORPHA:231222
Sjögren-Larsson Syndrome	Macular degeneration, Abnormal dental enamel morphology, Retinopathy, Joint stiffness, Abnormalit...	ORPHA:816
Retinitis Pigmentosa 62	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves...	OMIM:614181
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Bone cyst, Abnormal bone structure, Abnormality of the dentition, Premature loss of...	ORPHA:93160
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Premature graying of hair, Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly	OMIM:620367
Stargardt Disease	Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions...	ORPHA:827
Retinitis Pigmentosa 54	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613428
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
Oliver-Mcfarlane Syndrome	Central heterochromia, Retinal degeneration, Small for gestational age, Pigmentary retinopathy	OMIM:275400
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee...	ORPHA:1946
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Retrognathia, Mandibular prognathia, Camptodactyly of finger, Micrognathia, Bifid uvula, Abnormal...	ORPHA:2521
Oculoskeletodental Syndrome	Retrognathia, Hypocalcemia, Oligodontia, Abnormality of the dentition, Microdontia, Enamel hypopl...	ORPHA:557003
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Trichohepatoenteric Syndrome 1	Abnormality of iron homeostasis, Generalized hypopigmentation, Hypermethioninemia, Narrow mouth, ...	OMIM:222470
Diffuse Neonatal Hemangiomatosis	Hypercalcemia, Thrombocytopenia, Anemia	ORPHA:2123
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
Retinitis Pigmentosa 73	Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E...	OMIM:616544
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Delayed epiphyseal ossification, Hypocalcemia, Failure to thrive, Hypophosphatemia, Spar...	OMIM:600081
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Hypocalcemic tetany, Hyperph...	ORPHA:36913
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Generalized Pustular Psoriasis	Cheilitis, Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Leukoc...	ORPHA:247353
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Beta-Thalassemia	Reduced bone mineral density, Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Splenome...	ORPHA:848
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Calvarial osteosclerosis, Anemia, Retinal calcification, Decreased skull o...	ORPHA:93325
Dominant Beta-Thalassemia	Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hyperpigmentation of the skin, De...	ORPHA:231226
Alpha-Methylacyl-Coa Racemase Deficiency	Increased circulating very long-chain fatty acid concentration, Tremor, Intention tremor, Elevate...	OMIM:614307
Retinitis Pigmentosa 76	Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C...	OMIM:617123
Retinitis Pigmentosa 7	Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin...	OMIM:608133
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Naegeli-Franceschetti-Jadassohn Syndrome	Supernumerary tooth, Yellow-brown discoloration of the teeth, Premature loss of teeth, Hypopigmen...	ORPHA:69087
Primary Intestinal Lymphangiectasia	Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoproteinemia, Reduced prop...	ORPHA:90362
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy	ORPHA:75373
Senior-Loken Syndrome	Abnormality of bone mineral density, Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Porphyria, Congenital Erythropoietic	Osteopenia, Erythrodontia, Hyperpigmentation of the skin, Hypopigmentation of the skin, Elevated ...	OMIM:263700
Usher Syndrome Type 2	Abnormality of dental color, Abnormal dental enamel morphology, Microdontia, Carious teeth, Iris ...	ORPHA:231178
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:619007
Developmental And Epileptic Encephalopathy 66	Widely spaced teeth, Neutropenia, Anemia, Everted lower lip vermilion, Downturned corners of mout...	OMIM:618067
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Optic atrophy, Widely spaced teeth, Short philtrum, Camptodactyly, Increased mean platelet volume...	ORPHA:487796
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Cleft soft palate, Normoc...	ORPHA:124
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti...	ORPHA:215
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ...	OMIM:611040
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Usher Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Microdontia, Carious teeth, Abnor...	ORPHA:886
Beta-Thalassemia Major	Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hyperpigment...	ORPHA:231214
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia	OMIM:124900
Intellectual Disability And Myopathy Syndrome	Limited elbow extension, Incisor macrodontia, Cafe-au-lait spot, Spotty hypopigmentation, Achille...	OMIM:619719
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Ring Chromosome 10 Syndrome	Thin vermilion border, Hypocalcemia, Cachexia, Micrognathia, Long philtrum	ORPHA:1438
Paternal Uniparental Disomy Of Chromosome 1	Macular dystrophy, Abnormal retinal morphology on macular OCT, Abnormal dental enamel morphology,...	ORPHA:251004
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Dystonia, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:264470
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613801
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Reduced bone mineral density, Anemia, Optic nerve compression, Delayed eruption of...	ORPHA:667
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Retinitis Pigmentosa 95	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of...	OMIM:620102
Retinitis Pigmentosa 19	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:601718
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Spinocerebellar Ataxia 7	Optic atrophy, Macular degeneration, Tremor, Pigmentary retinopathy	OMIM:164500
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Rhabdoid Tumor	Hypercalcemia, Thrombocytopenia, Anemia, Weight loss	ORPHA:69077
Bernard-Soulier Syndrome	Giant platelets, Gingival bleeding, Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopeni...	ORPHA:274
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin vermilion border, Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Micrognathia, ...	OMIM:241410
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Abnormality of retinal pigmentation	ORPHA:2515
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent foveal reflex, Pi...	OMIM:204100
2P21 Microdeletion Syndrome	Hypocalcemia, Failure to thrive	ORPHA:163693
Retinitis Pigmentosa 96	Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:620228
Gracile Bone Dysplasia	Hypocalcemia, Decreased skull ossification, Ankyloglossia, Asplenia, Failure to thrive, Hypoplast...	OMIM:602361
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Hypocalcemia, Osteomalacia, Pathologic fracture, Elevated circulating creatinine con...	OMIM:179800
Temtamy Preaxial Brachydactyly Syndrome	Optic atrophy, Synostosis of carpals/tarsals, Abnormality of canine, Tarsal synostosis, Tooth mal...	ORPHA:363417
Liang-Wang Syndrome	Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Dystonia, Wide mou...	OMIM:618729
Congenital Rubella Syndrome	Thrombocytopenia, Abnormality of retinal pigmentation, Anemia, Splenomegaly	ORPHA:290
Localized Junctional Epidermolysis Bullosa	Abnormality of dental color, Enamel hypoplasia, Dental enamel pits, Limb joint contracture	ORPHA:251393
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Cone-Rod Dystrophy, X-Linked, 1	Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli...	OMIM:304020
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia, Delayed epiphyseal ossification	OMIM:618618
Zika Virus Disease	Optic disc hypoplasia, Arthritis, Chorioretinal atrophy, Abnormal optic disc morphology, Thromboc...	ORPHA:448237
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Diamond-Blackfan Anemia 1	Retrognathia, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean c...	OMIM:105650
Retinitis Pigmentosa 69	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:615780
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Oculoskeletodental Syndrome	Hypocalcemia, Oligodontia, Elbow flexion contracture, Hypercalcemia, Splenomegaly, Macroglossia, ...	OMIM:618440
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Congenital Erythropoietic Porphyria	Osteopenia, Erythrodontia, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobi...	ORPHA:79277
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Usher Syndrome, Type Iv	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc...	OMIM:618144
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Furrowed tongue	ORPHA:2743
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Tricho-Retino-Dento-Digital Syndrome	Supernumerary tooth, Oligodontia, Abnormality of retinal pigmentation, Abnormality of the dentition	ORPHA:1264
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Dentinogenesis Imperfecta 1	Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta	OMIM:125490
Pigmented Paravenous Chorioretinal Atrophy	Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina	OMIM:172870
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p...	OMIM:613673
Erythrocytosis, Familial, 4	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:611783
Leber Congenital Amaurosis 1	Optic disc drusen, Fundus atrophy, Attenuation of retinal blood vessels, Hyperthreoninemia, Pigme...	OMIM:204000
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Erythrocytosis, Familial, 5	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617907
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Osteopenia, Leg dystonia, Fractures of the long bones, Craniofacial dystonia, Limb...	ORPHA:157850
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Osteopetrosis, Diaphyseal sclerosis, Hypocalcemia, Increased skull ossification, T...	OMIM:618476
Intellectual Disability, Birk-Barel Type	High, narrow palate, Limited elbow flexion/extension, Short philtrum, Foot joint contracture, Inc...	ORPHA:166108
Ring Chromosome 14 Syndrome	High palate, Pigmentary retinopathy	OMIM:616606
Elliptocytosis 3	Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume	OMIM:617948
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-...	ORPHA:199306
Congenital Syphilis	Optic atrophy, Periostitis, Anemia, Chorioretinitis, High palate, Notched primary central incisor...	ORPHA:499009
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Choriocapillaris at...	OMIM:613835
Familial Isolated Hypoparathyroidism	Hypocalcemia, Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:2238
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hypophosphatemic rickets, Abnormality of dental color, Hypopigmentation of the skin, ...	OMIM:163200
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:609820
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Obesity, Hyperphosphatemia	OMIM:603233
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Hypophosphatasia, Infantile	Anemia, Unossified vertebral bodies, Abnormality of the dentition, Elevated plasma pyrophosphate,...	OMIM:241500
Acrootoocular Syndrome	Grayish enamel, Supernumerary tooth, High, narrow palate, Dental malocclusion, Hyperpigmented nev...	ORPHA:2980
Sanjad-Sakati Syndrome	Thin vermilion border, Hypocalcemia, Abnormal dental enamel morphology, Abnormality of the dentit...	ORPHA:2323
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Retinitis Pigmentosa 28	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:606068
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia	OMIM:620152
Wolfram Syndrome 1	Optic atrophy, Megaloblastic anemia, Tremor, Sideroblastic anemia, Thrombocytopenia, Pigmentary r...	OMIM:222300
Retinitis Pigmentosa 79	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O...	OMIM:617460
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Rubinstein-Taybi Syndrome 2	Narrow palate, Retrognathia, Increased overbite, High palate, Talon cusp, Carious teeth, Microgna...	OMIM:613684
Mitochondrial Complex I Deficiency, Nuclear Type 11	Failure to thrive, Osteoporosis, Pigmentary retinopathy	OMIM:618234
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, High palate, Hyponatremia, Micr...	OMIM:617913
Den Hoed-De Boer-Voisin Syndrome	Amelogenesis imperfecta, Widely spaced teeth, Delayed eruption of teeth, Yellow-brown discolorati...	OMIM:619229
Cartilage-Hair Hypoplasia	Limited elbow extension, Abnormal palate morphology, Abnormal bone ossification, Anemia, Hypocalc...	ORPHA:175
Clark-Baraitser syndrome	Thick lower lip vermilion, Prominent median palatal raphe, Exaggerated median tongue furrow, Maxi...	OMIM:300602
Mulibrey Nanism	Thickened cortex of long bones, Absent frontal sinuses, Dental crowding, Hypoplastic frontal sinu...	OMIM:253250
Heimler Syndrome 1	Amelogenesis imperfecta, Enamel hypoplasia, Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Hypotonia-Cystinuria Syndrome	Hypocalcemia, Failure to thrive, Tented upper lip vermilion	OMIM:606407
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Retinitis Pigmentosa 6	Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration	OMIM:312612
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hemolytic anemia, Hepatosplenomeg...	ORPHA:846
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-nega...	ORPHA:37042
Neuroleptic Malignant Syndrome	Hyperkalemia, Oculogyric crisis, Hyperuricemia, Hypocalcemia, Tremor, Leukocytosis, Elevated circ...	ORPHA:94093
Syndromic Diarrhea	Abnormality of iron homeostasis, Hypopigmentation of hair, Generalized hypopigmentation, Hypoplas...	ORPHA:84064
Retinitis Pigmentosa 1	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:180100
Congenital Muscular Dystrophy With Intellectual Disability	Multiple joint contractures, Elevated circulating creatine kinase concentration, Pigmentary retin...	ORPHA:370968
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
Pseudohypoparathyroidism Type 1A	Calcinosis, Reduced bone mineral density, Hypocalcemic seizures, Delayed eruption of teeth, Incre...	ORPHA:79443
Hereditary Methemoglobinemia	Lip discoloration, Athetosis, Limb dystonia, Small for gestational age, Methemoglobinemia	ORPHA:621
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Subperiosteal bone formation, Angioid streaks of the fundus, Hyperostosis, Enamel hyp...	OMIM:211900
Temtamy Preaxial Brachydactyly Syndrome	Optic atrophy, Tarsal synostosis, Talon cusp, Microdontia, Cleft palate, Radioulnar synostosis, D...	OMIM:605282
Atkin-Flaitz Syndrome	Abnormality of the dentition, Everted lower lip vermilion, Maxillary lateral incisor microdontia,...	ORPHA:1193
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Hypopigmented skin patches, Mandibular prognathia, Abnormality of retinal pigmenta...	ORPHA:2715
Cockayne Syndrome Type 1	Optic atrophy, Hypermelanotic macule, Hypoplasia of the primary teeth, Anemia, Foot joint contrac...	ORPHA:90321
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Delayed eruption of teeth, Increased bone mineral density, Hyp...	ORPHA:79444
Tricho-Dento-Osseous Syndrome	Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Increased bone mineral densit...	ORPHA:3352
Hepatoerythropoietic Porphyria	Osteopenia, Erythrodontia, Hyperpigmentation of the skin, Hypopigmentation of the skin, Osteoporo...	ORPHA:95159
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Hypoproteinemia, High palate, Micrognathia, Cleft palate, Malar flattening, Smooth ...	OMIM:235255
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia	OMIM:601198
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Retinitis Pigmentosa 2	Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Pigmentar...	OMIM:312600
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Arthritis, Increased circulating myelocyte count, Elevated circulating creatine kin...	ORPHA:36234
Pearson Syndrome	Anemia, Hypokalemia, Hyperpigmentation of the skin, Pancytopenia, Hypocalcemia, Hyperalaninemia, ...	ORPHA:699
Otodental Syndrome	Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d...	ORPHA:2791
Cohen Syndrome	Optic atrophy, High, narrow palate, Neutropenia, Short philtrum, Gingival overgrowth, Abnormality...	ORPHA:193
Congenital Disorder Of Glycosylation, Type Ig	Short philtrum, Retinal detachment, Hypocalcemia, Failure to thrive, Small for gestational age, T...	OMIM:607143
Oculopharyngodistal Myopathy 3	Tremor, Elevated circulating creatine kinase concentration, Pigmentary retinopathy	OMIM:619473
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Papilled...	OMIM:620366
Andersen-Tawil Syndrome	Abnormality of dental color, Dental crowding, Oligodontia, High palate, Abnormality of the dentit...	ORPHA:37553
Autosomal Dominant Hypocalcemia	Optic atrophy, Irregular hyperpigmentation, Reduced bone mineral density, Writer's cramp, Hypocal...	ORPHA:428
Retinitis Pigmentosa 87 With Choroidal Involvement	Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti...	OMIM:618697
Timothy Syndrome	Hypocalcemia, Thin upper lip vermilion, Microdontia	OMIM:601005
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ...	OMIM:145350
Arthrogryposis, Distal, Type 5	High palate, Congenital finger flexion contractures, Abnormality of retinal pigmentation, Distal ...	OMIM:108145
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Abnormal leukocyte morphology, Hypoproteinemia, Hypopigmentation of the ski...	ORPHA:167
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Opisthotonus, Weight loss, Generalized dystonia, Rod-cone dystrophy, Opti...	ORPHA:216866
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Reduced bone mineral density, Anemia, Pancytopenia, Hypocalcemia, High palat...	OMIM:613658
Hennekam Syndrome	Retrognathia, Supernumerary tooth, Short philtrum, Delayed eruption of teeth, Hypocalcemia, Gingi...	ORPHA:2136
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Subcutaneous ossification, Osteoporosis, Enamel hypoplasia, Obesity, H...	OMIM:103580
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Dystonia, Flexion contracture, Pigmentary retinopathy	OMIM:252011
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Diprosopus	Non-midline cleft of the upper lip, Abnormality of retinal pigmentation, Cleft palate	ORPHA:1681
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal...	ORPHA:31824
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Macular degeneration, Obesity, Attenuation of retinal bl...	OMIM:613464
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d...	ORPHA:364055
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Retrognathia, HbH hemoglobin, High palate, Failure to thrive, Micrognathia, Malar flattening, Fle...	ORPHA:98791
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Retinitis Pigmentosa 12	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:600105
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio...	OMIM:612095
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Abnormal erythrocyte morphology, Decreased body weight, Elevated circulating creat...	ORPHA:96180
Storage Pool Platelet Disease	Acute leukemia, Decreased mean platelet volume	OMIM:185050
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Tremor, Opisthotonus, Methemoglobinemia	OMIM:250800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Elevated circulating creatine kinase concentration, Flexion contracture, Open mouth, Macroglossia...	OMIM:613156
Autosomal Recessive Spastic Paraplegia Type 15	Retinal flecks, Hand tremor, Pigmentary retinopathy, Yellow/white lesions of the retina	ORPHA:100996
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Intellectual Developmental Disorder, Autosomal Dominant 21	Thin vermilion border, Incisor macrodontia, Narrow mouth, Cleft palate, Long philtrum	OMIM:615502
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Oculocutaneous Albinism Type 4	Optic nerve misrouting, Hypopigmentation of hair, Hypopigmentation of the skin, White hair, Iris ...	ORPHA:79435
Thrombocytopenia 1	Decreased mean platelet volume, Joint hemorrhage, Intermittent thrombocytopenia, Congenital throm...	OMIM:313900
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Joubert Syndrome 28	Joint hypermobility, Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Myelofibrosis, Absence of alpha granules, Impa...	OMIM:187900
Bornholm Eye Disease	Optic nerve hypoplasia, Abnormality of retinal pigmentation	OMIM:300843
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypocalcemia, Hypoproteinemia, High palate, Micrognathia, Hepatosplenomegaly, Splenomegaly, Smoot...	ORPHA:1655
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Camptodactyly, Attenuation of retinal blo...	OMIM:609033
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Prolidase Deficiency	Reduced bone mineral density, White forelock, Carious teeth, Micrognathia, Abnormality of retinal...	ORPHA:742
Osteogenesis Imperfecta	Reduced bone mineral density, Decreased skull ossification, Dentinogenesis imperfecta, Joint hype...	ORPHA:666
Lowry-Maclean Syndrome	Osteopenia, Retrognathia, High, narrow palate, Talon cusp, Osteoporosis, Hypoplasia of the maxill...	ORPHA:2409
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Short philtrum, Hypocalcemia, Hyperextensibility of the finger joints, Hyperbilirubinemia...	ORPHA:163979
Erythrocytosis, Familial, 2	Failure to thrive, Increased circulating hemoglobin concentration, Increased red blood cell mass,...	OMIM:263400
Mucopolysaccharidosis Type 4	Grayish enamel, Reduced bone mineral density, Abnormal dental enamel morphology, Abnormality of t...	ORPHA:582
Retinitis Pigmentosa 56	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613581
Rhizomelic Chondrodysplasia Punctata, Type 2	Failure to thrive, Decreased circulating plasmalogen concentration, Reduced Acyl-CoA:dihydroxyace...	OMIM:222765
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation, Flexion contracture	ORPHA:141
Bardet-Biedl Syndrome 3	Obesity, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:600151
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Failure to thrive in infancy, Pigmentary retinopathy	ORPHA:746
Hyperparathyroidism, Neonatal Severe	Calcinosis, Anemia, Failure to thrive, Hypercalcemia, Hypophosphatemia, Splenomegaly, Recurrent f...	OMIM:239200
Acute Zonal Occult Outer Retinopathy	Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac...	ORPHA:284454
Waardenburg-Shah Syndrome	Premature graying of hair, Hypopigmentation of hair, White forelock, Abnormality of retinal pigme...	ORPHA:897
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia, Pathologic fracture, Fibrous dysplasia of the bones, Increased su...	ORPHA:352540
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b...	OMIM:604116
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Reduced bone mineral density, Abnormality of the dentition, Osteoporosis, Obesity, Rod-cone dystr...	ORPHA:2235
Retinitis Pigmentosa 10	Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ...	OMIM:180105
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Laurence-Moon Syndrome	Obesity, Chorioretinal atrophy, Pigmentary retinopathy	OMIM:245800
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Short philtrum, Thrombocytopenia, Macrothrombocytopenia, Neut...	OMIM:603585
Coffin-Lowry Syndrome	Optic atrophy, Narrow palate, Advanced eruption of teeth, Thick lower lip vermilion, Widely space...	ORPHA:192
Mucopolysaccharidosis, Type Iva	Grayish enamel, Widely spaced teeth, Mandibular prognathia, Osteoporosis, Carious teeth, Wide mou...	OMIM:253000
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormal palate morphology, Abnormality of retinal pigmentation	ORPHA:44
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Failure to thrive, Ellip...	OMIM:618278
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Oculocutaneous Albinism Type 2	Blue irides, Optic nerve misrouting, Macular hypopigmentation, Iris transillumination defect, Hyp...	ORPHA:79432
Mucopolysaccharidosis, Type Ivb	Grayish enamel, Widely spaced teeth, Mandibular prognathia, Osteoporosis, Joint stiffness, Cariou...	OMIM:253010
Castleman Disease	Anemia, Elevated circulating C-reactive protein concentration, Myelofibrosis, Thrombocytopenia, W...	ORPHA:160
Desmoid Tumor	Abnormality of retinal pigmentation, Limitation of joint mobility, Osteolysis	ORPHA:873
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Short philtrum, High palate, Dystonia, Tented upper lip vermilion, Long p...	OMIM:614105
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Abnormal chorioretinal morphology, Chorioretinal atrophy, Retinopathy, Failure to thrive, Abnorma...	ORPHA:5
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:615973
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Mucopolysaccharidosis, Type Ii	Widely spaced teeth, Thick lower lip vermilion, Delayed eruption of teeth, Tracheobronchomalacia,...	OMIM:309900
Cranioectodermal Dysplasia 1	High, narrow palate, Widely spaced teeth, Retinal dystrophy, Hypocalcemia, High palate, Everted l...	OMIM:218330
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Vitreous float...	OMIM:618173
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Obesity, Abnormality of retinal pigmentation	ORPHA:3085
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Hypoplasia of the thymus, Camptodactyly, Elevated circulating long chain f...	OMIM:214110
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Generalized bone demineralization, Macrocytic anemia, Hyperuricemia, Failure t...	ORPHA:199299
22Q11.2 Deletion Syndrome	Multiple suture craniosynostosis, Splenomegaly, Joint hypermobility, Long philtrum, Optic atrophy...	ORPHA:567
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r...	OMIM:617304
Retinitis Pigmentosa 46	Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:612572
Cone-Rod Dystrophy 8	Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re...	OMIM:605549
Non-Functioning Paraganglioma	Hypertensive retinopathy, Tremor, Hypercalcemia, Weight loss	ORPHA:94080
X-Linked Intellectual Disability Due To Gria3 Mutations	Narrow palate, Short philtrum, Mandibular prognathia, Short upper lip, Slender build, Malar flatt...	ORPHA:364028
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia...	ORPHA:26793
Fibrous Dysplasia Of Bone	Rickets, Abnormality of the sphenoid sinus, Abnormal facial skeleton morphology, Abnormal zygomat...	ORPHA:249
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Retrognathia, Everted lower lip vermilion, Persistence of hemoglobin F, Micrognathia, Joint hyper...	OMIM:617101
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Osteoporosis, Failure to thrive, Mottled pigmentation of photoexposed areas, Pigmentary ...	OMIM:560000
Velocardiofacial Syndrome	Retrognathia, Hypocalcemia, Velopharyngeal insufficiency, Cleft palate, Pierre-Robin sequence, Op...	OMIM:192430
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	High palate, Pigmentary retinopathy	ORPHA:329336
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation, Everted lower lip vermilion, Microdontia	ORPHA:578
Leigh Syndrome	Optic atrophy, Failure to thrive, Dystonia, Pigmentary retinopathy	OMIM:256000
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic atrophy, Athetosis, Blepharospasm, Pigmentary retinopathy, Craniofacial dystonia, Failure t...	OMIM:617282
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Anemia, Hypotriglyceridemia, Hyperbilirubine...	ORPHA:14
Double Outlet Right Ventricle	Hypocalcemia, Narrow mouth, Failure to thrive, Cleft palate, Submucous cleft hard palate	ORPHA:3426
Retinitis Pigmentosa 43	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613810
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Truncal obesity, Obesity, Attenuation of retinal blood v...	OMIM:615986
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Tremor, Dystonia	ORPHA:96
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Hyperglycinemia, Hyperalaninemia, Pigmentary retinopathy	OMIM:619059
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Retinitis Pigmentosa 3	Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:300029
Retinitis Punctata Albescens	Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina...	ORPHA:52427
Infantile Myofibromatosis	Irregular hyperpigmentation, Gingival fibromatosis, Bone cyst, Limitation of joint mobility, Hype...	ORPHA:2591
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Genetic Recurrent Myoglobinuria	Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia	ORPHA:99845
Oculodentodigital Dysplasia, Autosomal Recessive	Thin vermilion border, Hypoplasia of the primary teeth, Delayed eruption of teeth, Dental crowdin...	OMIM:257850
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Abcd Syndrome	Large for gestational age, Polycythemia, White eyelashes, White eyebrow, Hypopigmentation of the ...	OMIM:600501
Vitreoretinochoroidopathy	Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti...	OMIM:193220
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased mean platelet vol...	OMIM:617718
Multiple Sulfatase Deficiency	Optic atrophy, Joint stiffness, Abnormality of retinal pigmentation, Splenomegaly, Smooth philtrum	ORPHA:585
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Craniosynostosis, Hypercalcemia	OMIM:614732
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:617547
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Tented upper lip vermilion, Retinal pigment epithelial mottling, Thin upper lip vermilion	OMIM:619517
Vici Syndrome	Optic atrophy, High palate, Hypopigmentation of the skin, Joint stiffness, Abnormality of retinal...	ORPHA:1493
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp...	ORPHA:79434
Marshall Syndrome	Thick lower lip vermilion, Retinal detachment, Absent frontal sinuses, Vitreoretinopathy, Knee os...	OMIM:154780
Retinitis Pigmentosa 25	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess...	OMIM:602772
Hypercalcemia, Infantile, 2	Failure to thrive, Hypercalcemia, Hypophosphatemia	OMIM:616963
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Carious teeth, Widely spaced teeth, Retinal pigment epithelial mottling, Thick vermilion border	OMIM:617102
Multiple Myeloma	Osteopenia, Anemia, Hypercalcemia, Splenomegaly, Weight loss, Hyperproteinemia, Pathologic fractu...	ORPHA:29073
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Anemia, High palate, Failure to thrive, Pigmentary retinopathy	OMIM:220110
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Macular coloboma, Methylmalonic acidemia, Hyperhomocystinemia, Stomatitis, Abnorma...	ORPHA:79282
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Septic arthritis, Hemol...	ORPHA:544482
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Bone spicule pigmentation of the retina, Camptodactyly, Flexion contracture o...	ORPHA:88628
Paget Disease Of Bone 2, Early-Onset	Premature loss of teeth, Osteosclerosis of the ulna, Fractures of the long bones, Hypercalcemia, ...	OMIM:602080
Vitamin D-Dependent Rickets, Type 2A	Rickets, Hypocalcemic seizures, Delayed eruption of teeth, Delayed epiphyseal ossification, Ename...	OMIM:277440
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Failure to thrive, Anemia, Pigmentary retinopathy	ORPHA:436271
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Open mouth, Thick vermilion border, Macrodontia of permanent maxillary central incisor, Exaggerat...	OMIM:620114
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Femur fracture, Osteopetrosis, Hypocalcemic seizures, Anemia, Optic nerve compress...	OMIM:612301
Familial Isolated Hyperparathyroidism	Osteopenia, Generalized osteoporosis, Hypercalcemia, Hypophosphatemia	ORPHA:99879
Hypomagnesemia 3, Renal	Amelogenesis imperfecta, Rickets, Hypocalcemic seizures, Increased circulating beta-C-terminal te...	OMIM:248250
Enamel-Renal Syndrome	Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno...	ORPHA:1031
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal blood ves...	ORPHA:791
Intellectual Developmental Disorder And Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:618195
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Abnormality of primary teeth, Incisor macrodontia, High palate, Exaggerated startle response, Dys...	ORPHA:438216
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Micrognathia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Tremor, Cystathioninemia, Fail...	OMIM:277400
Kearns-Sayre Syndrome	Sideroblastic anemia, Pigmentary retinopathy	OMIM:530000
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Overweight, Persistence of hemoglobin F, Persistence of primary teeth	OMIM:619769
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Anemia, Joint stiffness, Abnormality of retinal pigmentation, Leukopenia, Thick ve...	ORPHA:505248
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:301000
Chromosome 6Pter-P24 Deletion Syndrome	Dental crowding, High palate, Narrow mouth, Abnormal dental morphology, Cleft upper lip, Malar fl...	OMIM:612582
Juvenile Neuronal Ceroid Lipofuscinosis	Retinal degeneration, Optic disc pallor, Pigmentary retinopathy	ORPHA:79264
Micro Syndrome	Optic atrophy, Short philtrum, High palate, Retinal coloboma, Joint stiffness, Micrognathia, Abno...	ORPHA:2510
Hypermanganesemia With Dystonia 1	Increased total iron binding capacity, Tremor, Unconjugated hyperbilirubinemia, Polycythemia, Dys...	OMIM:613280
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Tooth malposition, Micrognathia, Hip contracture, Hypercalcemia, Hypophosphatemia, Kn...	OMIM:156400
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, T lymphocytopenia, Sinusitis, Failure to thrive, Coombs-po...	ORPHA:83471
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Tempi Syndrome	Polycythemia, Increased hematocrit	ORPHA:284227
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Rickets, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Recurrent fr...	OMIM:268315
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Conical incisor, Carious teeth, Enamel hypoplasia	OMIM:614564
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Tremor, High palate, Pigmentary retinopathy, Micrognathia, Mildly elevated creatine kinase, Optic...	ORPHA:502423
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Weight loss, Knee flexion contracture	ORPHA:3208
Joubert Syndrome 3	Open mouth, Retinal dystrophy, Pigmentary retinopathy	OMIM:608629
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Wide mouth, Few cafe-au-lait spots, Joint hypermobility, Hypocalcemia, Elbow fle...	OMIM:619503
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Retinitis Pigmentosa 49	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613756
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow palate, Retrognathia, Delayed eruption of teeth, Conical incisor, Oligodontia, Gingival ov...	OMIM:235510
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Reduced bone mineral density, Tarsal sclerosis, Sclerosis of finger phalanx, Hypot...	ORPHA:404454
Cholera	Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia	ORPHA:173
Refsum Disease	Retinopathy, Abnormality of retinal pigmentation, Splenomegaly	ORPHA:773
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic nerve dysplasia, Optic atrophy, Increased circulating very long-chain fatty acid concentrat...	OMIM:614866
Nance-Horan Syndrome	Screwdriver-shaped incisors, Supernumerary maxillary incisor, Diastema, Mulberry molar	OMIM:302350
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Werner Syndrome	Premature graying of hair, Neoplasm of the oral cavity, Increased bone mineral density, Osteoporo...	ORPHA:902
Cone-Rod Dystrophy 2	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ...	OMIM:120970
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Malar prominence, B lymphocytopenia, T lymphocytopenia, Cafe-au-lait...	OMIM:251260
Cockayne Syndrome	Cachexia, Retinal atrophy, Action tremor, Splenomegaly, Delayed eruption of primary teeth, Optic ...	ORPHA:191
Retinitis Pigmentosa 72	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro...	OMIM:616469
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Eruption failure, Tremor, High palate, Abnormality of the dentition, Failure to ...	ORPHA:476126
Cockayne Syndrome A	Optic atrophy, Mandibular prognathia, Retinal atrophy, Tremor, Limitation of joint mobility, Fail...	OMIM:216400
Retinitis Pigmentosa 14	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola...	OMIM:600132
Gitelman Syndrome	Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Failure to thrive, Hypomagnes...	ORPHA:358
Myopathy, Mitochondrial, And Ataxia	Mandibular prognathia, Tremor, High palate, Elevated circulating creatine kinase concentration, M...	OMIM:617675
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Failure to thrive, Hyponatremia, Hypophosphatemia, Hypoc...	ORPHA:411634
Retinitis Pigmentosa 60	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:613983
Bardet-Biedl Syndrome 17	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Obesity, Retinal degeneration, ...	OMIM:615994
Orofaciodigital Syndrome Type 2	Central retinal vessel vascular tortuosity, Peg-shaped maxillary lateral incisors, High palate, T...	ORPHA:2751
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia, Hyperostosis fronta...	OMIM:203800
Khan-Khan-Katsanis Syndrome	Anemia, Triangular mouth, Failure to thrive, Micrognathia, Joint contracture, Tented upper lip ve...	OMIM:618460
Ziegler-Huang Syndrome	Persistence of hemoglobin F, Macrocytic anemia, Neutropenia	OMIM:620501
Lowry-Wood Syndrome	Limited elbow extension, Elbow flexion contracture, Thick vermilion border, Small for gestational...	OMIM:226960
Bardet-Biedl Syndrome 6	Obesity, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:605231
Barth Syndrome	Failure to thrive, Elevated monolysocardiolipin/cardiolipin ratio	OMIM:302060
Corpus Callosum Agenesis-Neuronopathy Syndrome	Craniosynostosis, Abnormality of retinal pigmentation	ORPHA:1496
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Chorioretinal coloboma, Melanocytic nevus, Generalized hyper...	ORPHA:2481
Ellis Van Creveld Syndrome	Acute leukemia, Thin vermilion border, Delayed eruption of teeth, Conical incisor, Abnormality of...	ORPHA:289
Cone-Rod Dystrophy 10	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:610283
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Rickets, Retinal pigment epithelial mottling	OMIM:219900
Addison Disease	Hyperkalemia, Normocytic anemia, Generalized bone demineralization, Hyperpigmentation of the skin...	ORPHA:85138
Blue Diaper Syndrome	Hyperphosphatemia, Increased body weight, Hypercalcemia	ORPHA:94086
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Thick lower lip vermilion, Anemia, Abnormality of the dentition, Everted lower lip...	ORPHA:847
Liver Disease, Severe Congenital	Anemia, Lymphocytosis, Hyperbilirubinemia, Hypocalcemia, Hypoproteinemia, Hyperalaninemia, Failur...	OMIM:619991
Acute Adrenal Insufficiency	Hyperkalemia, Normocytic anemia, Hyperpigmentation of the skin, Hyperuricemia, Increased circulat...	ORPHA:95409
Autosomal Recessive Spastic Paraplegia Type 77	Retrognathia, Paroxysmal dystonia, Intention tremor, Dystonia, Macrodontia of permanent maxillary...	ORPHA:466722
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor	OMIM:620062
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Craniofacioskeletal Syndrome	Short philtrum, Hypocalcemia, Hypoplastic frontal sinuses, Micrognathia, Cleft palate, Thin upper...	OMIM:300712
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening, Hypercalcemia, Hyperphosp...	OMIM:617994
Cockayne Syndrome B	Optic atrophy, Severe failure to thrive, Mandibular prognathia, Tremor, Limitation of joint mobil...	OMIM:133540
Pheochromocytoma--Islet Cell Tumor Syndrome	Cafe-au-lait spot, Hypertensive retinopathy, Hypercalcemia, Axillary freckling	OMIM:171420
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age...	OMIM:313500
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Hyperpigmentation of the skin, Tremor, Blepharospasm, Dystonia, Retinal degenerati...	OMIM:234200
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures, Cleft palate, Rod-cone dystrophy	ORPHA:2237
Digeorge Syndrome	High, narrow palate, Anemia, Short philtrum, Hypocalcemia, High palate, Hypoplasia of the thymus,...	OMIM:188400
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Elevated circulating creatine kinase concentration, Pigmentary retinopathy	ORPHA:79095
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytopenia,...	ORPHA:466650
Shwachman-Diamond Syndrome 1	Anemia, Acute myeloid leukemia, Pancytopenia, Irregular ossification at anterior rib ends, Persis...	OMIM:260400
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased red blood cell count, Elevated plasma cell coun...	ORPHA:90041
Mucopolysaccharidosis Type 2	Optic atrophy, Hip osteoarthritis, Flexion contracture of digit, Gingival overgrowth, Temporomand...	ORPHA:580
Lead Poisoning	Abnormal T cell morphology, Cranial hyperostosis, Decreased HDL cholesterol concentration, Anemia...	ORPHA:330015
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Enamel hypoplasia, Vitiligo, Perifoveal ring of hyperautofluorescence, Pigmentary retin...	OMIM:240300
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating creatine kinase concentration, Failure to thrive, Hyperammonemia, Elevated c...	OMIM:609015
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Retinal detachment, Dental crowding, High palate, Osteoporosis, Joint stiffness, A...	ORPHA:394
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Failure to thrive, Hypercalcemia	OMIM:239199
Retinitis Pigmentosa 66	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:615233
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Epiphyseal stippling, High palate, Pigmentary retinopathy, Elevated circulat...	OMIM:214100
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hypochromic microcytic anemia, Iro...	ORPHA:97214
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia, Optic nerve hypoplasia, Mandibular prognathia, High palate, Bifid uvula, Dystonia, ...	OMIM:620330
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:300578
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, High, narrow palate, Joint hypermobility, Premature loss of tee...	ORPHA:369837
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:268020
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Abnormal optic nerve mor...	ORPHA:2526
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertensive retinopathy, Tremor, Hypercalcemia, Weight loss	ORPHA:276621
Cystinosis, Nephropathic	Rickets, Hypophosphatemic rickets, Hypopigmentation of hair, Reduced blood urea nitrogen, Hypokal...	OMIM:219800
Enhanced S-Cone Syndrome	Vitreoretinopathy, Macular edema, Pigmentary retinopathy, Retinoschisis	OMIM:268100
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Arthritis, Gingival overgrowth, Temporomandibular joint ankylosis, Limitation of j...	ORPHA:217085
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Hypotriglyceridemia, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of r...	ORPHA:85167
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:617023
Thymic Neuroendocrine Tumor	Osteopenia, Hypercalcemia, Weight loss	ORPHA:97289
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Abnormality of retinal pigmentation	ORPHA:2163
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Arthritis, Gingival overgrowth, Temporomandibular joint ankylosis, Limitation of j...	ORPHA:217093
Chromosome 8Q21.11 Deletion Syndrome	Short philtrum, Exaggerated cupid's bow, High palate, Camptodactyly, Downturned corners of mouth,...	OMIM:614230
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Thick lower lip vermilion, Hypochromic microcytic anemia, Reduced alpha/beta synt...	OMIM:301040
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Choroidal neovascularization, Normochromic anemia, Elevate...	ORPHA:91500
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia	ORPHA:31826
Aicardi Syndrome	Optic atrophy, Short philtrum, Retinal detachment, Abnormality of skin pigmentation, Cleft upper ...	ORPHA:50
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Decreased circulating carnitine concentration, Abnormal circulating acylcarnitine concentration, ...	ORPHA:71212
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Lowry-Wood Syndrome	Joint stiffness, Abnormality of retinal pigmentation	ORPHA:1824
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Bardet-Biedl Syndrome 1	High, narrow palate, Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluores...	OMIM:209900
Igg4-Related Thyroid Disease	Sialadenitis, Hypocalcemia	ORPHA:64744
Mucopolysaccharidosis Type 3	Optic atrophy, Reduced bone mineral density, Craniofacial hyperostosis, Abnormality of the dentit...	ORPHA:581
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Failure to thrive, Micrognathia, Long philtrum, Dental malocclusion, Macr...	ORPHA:444072
Thymoma	Aplastic anemia, Rheumatoid arthritis, Pure red cell aplasia, Weight loss, Imbalanced hemoglobin ...	ORPHA:99867
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Retinal dysplasia, Elevated circulating creatine kinase concentration, Flexion con...	OMIM:613154
Infantile Nephropathic Cystinosis	Rickets, Hypokalemia, Failure to thrive, Hypophosphatemia, Abnormal blood ion concentration, Pigm...	ORPHA:411629
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Thin vermilion border, Dental malocclusion, Abnormality of dermal melanosomes, Conica...	ORPHA:73223
Joubert Syndrome 8	Obesity, Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Spondylocarpotarsal Synostosis Syndrome	Limited elbow extension, Tarsal synostosis, Enamel hypoplasia, Abnormality of retinal pigmentatio...	OMIM:272460
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Microdontia, Micrognathia	OMIM:610706
Retinitis Pigmentosa 74	Obesity, Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor	OMIM:616562
Chromosome 16Q12 Duplication Syndrome	Retinal pigment epithelial mottling, Central thinning of the outer nuclear layer of the retina, T...	OMIM:619649
Glucose-Galactose Malabsorption	Failure to thrive, Hypercalcemia, Weight loss, Hypernatremia	ORPHA:35710
Cone-Rod Dystrophy 6	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat...	OMIM:601777
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany	ORPHA:73224
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Wrist flexion contracture, Chorioretinal lacu...	OMIM:618733
Doors Syndrome	Optic atrophy, Narrow palate, Widely spaced teeth, Thick lower lip vermilion, Broad alveolar ridg...	ORPHA:79500
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Tremor, Hypercalcemia, Weight loss, Hypertensive retinopathy	ORPHA:29072
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted lower lip ve...	ORPHA:364577
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short hard palate, Cachexia, Generalized hypopigmentation, Multiple cafe-au-lait spots, Abnormali...	ORPHA:1969
Rubinstein-Taybi Syndrome 1	Retrognathia, Dental crowding, Joint hypermobility, Narrow palate, Accessory spleen, Talon cusp, ...	OMIM:180849
Ramon Syndrome	Narrow palate, Gingival fibromatosis, Delayed eruption of teeth, Decreased body weight, Pigmentar...	OMIM:266270
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Retrognathia, Abnormal vitreous humor morphology, Retinal dysplasia, ...	ORPHA:2556
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Trisomy 18	Narrow palate, Cachexia, Non-midline cleft of the upper lip, Narrow mouth, Camptodactyly of finge...	ORPHA:3380
Melas	Optic atrophy, Anemia, Failure to thrive, Vitiligo, Pigmentary retinopathy	ORPHA:550
Retinoblastoma	Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Heterochromia ir...	ORPHA:790
Leber Congenital Amaurosis 15	Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal degenerat...	OMIM:613843
Atypical Werner Syndrome	Premature graying of hair, Thin vermilion border, Neoplasm of the oral cavity, Reduced bone miner...	ORPHA:79474
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Joint contracture of the hand, Tremor, Congenital finger flexion contractures, Tongue tremor, Abn...	ORPHA:466768
Glucagonoma	Normochromic anemia, Stomatitis, Glossitis, Hypercalcemia, Weight loss, Acanthocytosis	ORPHA:97280
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Monosomy 13Q34	Obesity, Micrognathia, Hypercalcemia	ORPHA:96168
Hardikar Syndrome	Cleft soft palate, Bilateral cleft palate, Hyperbilirubinemia, Unilateral cleft palate, Osteoporo...	OMIM:301068
Odontoonychodermal Dysplasia	Smooth tongue, Conical incisor, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t...	OMIM:257980
Elsahy-Waters Syndrome	Agenesis of incisor, Supernumerary tooth, Thick lower lip vermilion, Cervical C2/C3 vertebral fus...	OMIM:211380
Bloom Syndrome	Hypopigmentation of the skin, Cafe-au-lait spot, Malar flattening, Elevated hemoglobin A1c, Agene...	OMIM:210900
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Arthrogryposis, Distal, Type 12	Ankle flexion contracture, Dental crowding, Agenesis of maxillary incisor, High palate, Congenita...	OMIM:620545
Johanson-Blizzard Syndrome	Hypoplasia of the primary teeth, Hypocalcemia, Increased VLDL cholesterol concentration, Cafe-au-...	OMIM:243800
Neurofibromatosis Type 1	Hypopigmented skin patches, Inguinal freckling, Osteopenia, Chronic myelogenous leukemia, Multipl...	ORPHA:636
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Narrow palate, Supernumerary tooth, Dental crowding, Talon cusp, Retinopathy, Failure to thrive, ...	ORPHA:353281
Uremic Pruritus	Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia	ORPHA:94059
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Failure to thrive, Cleft lip, Notched primary central incisor	OMIM:620519
Charge Syndrome	Hypocalcemia, Retinal coloboma, Cleft upper lip, Micrognathia, Cleft palate, Malar flattening, Ly...	OMIM:214800
Arboleda-Tham Syndrome	Optic atrophy, Short philtrum, Peg-shaped maxillary lateral incisors, Mandibular prognathia, Narr...	OMIM:616268
Cerebellofaciodental Syndrome	Dental malocclusion, Macrodontia of permanent maxillary central incisor, Taurodontia	OMIM:616202
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Thin vermilion border, Short philtrum, Joint contracture of the 5th finger, Narrow mo...	ORPHA:363611
Spinal Cord Injury	Allodynia, Hypercalcemia	ORPHA:90058
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Hyperalaninemia, Failure to thrive, Dystonia, Low plasma citrulline, Rod-cone dyst...	ORPHA:255210
Proteus Syndrome	Irregular hyperpigmentation, Cachexia, Calvarial hyperostosis, Tooth agenesis, Joint stiffness, S...	ORPHA:744
Vipoma	Hypokalemia, Normochromic anemia, Hypercalcemia, Weight loss	ORPHA:97282
Orofaciodigital Syndrome Ii	High palate, Agenesis of central incisor, Hypoplasia of the maxilla, Micrognathia, Cleft palate, ...	OMIM:252100
Pheochromocytoma	Cafe-au-lait spot, Hypertensive retinopathy, Hypercalcemia	OMIM:171300
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia, Osteomalacia, Renal hypophosphatemia	ORPHA:405
Williams Syndrome	Abnormal circulating lipid concentration, Everted lower lip vermilion, Microdontia, Joint stiffne...	ORPHA:904
Sarcoidosis	Anemia, Hyperpigmentation of the skin, Bone cyst, Parotitis, Hypopigmentation of the skin, Increa...	ORPHA:797
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperchloriduria, Hypokalemia, Hypochloremia, Increased circulating renin level, Fail...	OMIM:601678
Somatostatinoma	Hypercalcemia, Hypochromic microcytic anemia, Weight loss	ORPHA:97283
Peters-Plus Syndrome	Thin vermilion border, Limited elbow movement, Widely spaced teeth, Craniosynostosis, Conical inc...	OMIM:261540
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Freckling, Pigmentary retinopathy	OMIM:610651
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Parathyroid Carcinoma	Mandibular pain, Osteoporosis, Hypercalcemia, Hypophosphatemia, Weight loss	ORPHA:143
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
W Syndrome	Camptodactyly, Upper lip pit, Submucous cleft hard palate, Broad uvula, Agenesis of maxillary cen...	ORPHA:2804
Orofacial Cleft 15	Palate fistula, Bilateral cleft palate, Agenesis of lateral incisor, Bilateral cleft lip	OMIM:616788
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Retrognathia, Action tremor, Joint hypermobility, Optic atrophy, Short phil...	ORPHA:3455
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mildly elevated creatine kinase, Retinal pigment epithelial mottling, Weight loss	OMIM:607459
Isolated Cleft Lip	Supernumerary maxillary incisor, Non-midline cleft of the upper lip, Bilateral cleft lip, Velopha...	ORPHA:199302
Alkaptonuria	Irregular hyperpigmentation, Increased susceptibility to fractures, Reduced bone mineral density,...	ORPHA:56
Hyperparathyroidism-Jaw Tumor Syndrome	Mandibular pain, Hypercalcemia, Hypophosphatemia, Osteoporosis	ORPHA:99880
Alström Syndrome	Hypertriglyceridemia, Drusen, Retinal dystrophy, Abnormality of dental color, Hyperostosis fronta...	ORPHA:64
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Narrow palate, Supernumerary tooth, Dental crowding, High palate, Talon cusp, Failure to thrive, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Narrow palate, Supernumerary tooth, Dental crowding, High palate, Talon cusp, Failure to thrive, ...	ORPHA:353277
Williams-Beuren Syndrome	Premature graying of hair, Blue irides, Osteopenia, Thick lower lip vermilion, Joint hypermobilit...	OMIM:194050
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Agenesis of permanent teeth,...	OMIM:150400
Holoprosencephaly 9	Agenesis of incisor, Thick lower lip vermilion, Solitary median maxillary central incisor, Short ...	OMIM:610829
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Sotos Syndrome	Ankle flexion contracture, Joint hypermobility, Hyperpigmentation of the skin, Craniosynostosis, ...	ORPHA:821
Multiple Endocrine Neoplasia Type 1	Reduced bone mineral density, Gingival fibromatosis, Large cafe-au-lait macules with irregular ma...	ORPHA:652
Chilton-Okur-Chung Neurodevelopmental Syndrome	Agenesis of incisor, Widely spaced teeth, Short philtrum, Mandibular prognathia, Ankyloglossia, S...	OMIM:619841
Multiple Endocrine Neoplasia, Type I	Cafe-au-lait spot, Hypercalcemia	OMIM:131100
Multiple Endocrine Neoplasia Type 2	Joint hypermobility, Hypercalcemia, Thick vermilion border, Abnormal tongue morphology	ORPHA:653
Alagille Syndrome 1	Hypertriglyceridemia, Chorioretinal atrophy, Failure to thrive, Hypercholesterolemia, Pigmentary ...	OMIM:118450
Linear Skin Defects With Multiple Congenital Anomalies 1	Cleft palate, Pigmentary retinopathy	OMIM:309801
Cornelia De Lange Syndrome 6	Long philtrum, Cleft lip, Macrodontia of permanent maxillary central incisor	OMIM:620568
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Narrow mouth, Failure to thrive, Hypercholesterolemia, Small for gestationa...	OMIM:606721
Ppoma	Hypercalcemia, Weight loss	ORPHA:97278
Zollinger-Ellison Syndrome	Hypercalcemia, Weight loss	ORPHA:913
Chand Syndrome	Agenesis of maxillary incisor, Abnormal oral frenulum morphology, Commissural lip pit, Cleft pala...	ORPHA:1401
Grfoma	Hypercalcemia, Weight loss	ORPHA:97261
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, High palate, Narrow mouth, Cleft mandible, Micrognathia, Pierre-Robin...	OMIM:268305
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Conical incisor, Aplasia of the parotid gland, Microdontia, Carious teet...	OMIM:149730
Cancer-Associated Retinopathy	Optic atrophy, Granular macular appearance, Retinal atrophy, Optic disc pallor, Retinal pigment e...	ORPHA:71505
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Microphthalmia, Syndromic 1	Orofacial cleft, High, narrow palate, Tooth malposition, Dental crowding, High palate, Camptodact...	OMIM:309800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Peds1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Peds1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Alterations in ether lipid metabolism and the consequences for the mouse lipidome.	Biochimica et biophysica acta. Molecular and cell biology of lipids (January 2023)	Peds1^{tm1a(KOMP)Wtsi}	36690320

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Peds1^{tm361668(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Peds1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Peds1^{tm35635(L1L2_Pgk_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Peds1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Peds1 MGI:2142624

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