Gene Summary

Name:
serine (or cysteine) peptidase inhibitor, clade F, member 1
Synonyms:
EPC-1,  Pedf,  Sdf3,  pigment epithelium derived factor,  Pedfl

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean corpuscular hemoglobin concentration Serpinf1tm1e.1(KOMP)Wtsi HOM Early adult 1.24×10-09
abnormal spleen morphology Serpinf1tm1e.1(KOMP)Wtsi HOM Early adult 0.00

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
Bone  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 50% (1 of 2)
Vas deferens  Wholemount images heterozygote Not available
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system 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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

4 Images

Human diseases caused by Serpinf1 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.

The table below shows human diseases associated to Serpinf1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteogenesis Imperfecta, Type Vi
Increased susceptibility to fractures, Joint laxity OMIM:613982

The table below shows human diseases predicted to be associated to Serpinf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Pigmentary retinopathy OMIM:609016
Oliver-Mcfarlane Syndrome
Cryptorchidism, Central heterochromia, Pigmentary retinopathy, Retinal degeneration, Hypoplasia o... OMIM:275400
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia OMIM:613977
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Optic nerve hypoplasia ORPHA:65288
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia OMIM:206100
Central Areolar Choroidal Dystrophy
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... ORPHA:75377
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... OMIM:608051
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... OMIM:180210
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Persistent Placoid Maculopathy
Abnormal macular morphology, Retinal pigment epithelial mottling, Choroidal neovascularization, H... ORPHA:97341
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Congenital hepatic fibrosis, Premature ovarian insufficiency... ORPHA:3156
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Pigmentary retinopathy OMIM:614307
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:609913
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Retinitis Pigmentosa 30
Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Bone spicule pigmenta... OMIM:607921
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation ORPHA:35612
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:610359
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... ORPHA:85128
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... OMIM:305390
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal testis morphology, Abnormal retinal vascular morpho... ORPHA:791
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Rod-cone dystrophy, Op... OMIM:612572
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Hepatomegaly, Optic atrophy, Rod-cone dystrophy, Diffuse hepatic steatosis OMIM:264470
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Central Retinal Vein Occlusion
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Supernumerary nipple ORPHA:1433
Hypophosphatasia, Adult
Rickets, Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to frac... OMIM:146300
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Ring Chromosome 14 Syndrome
High palate, Pigmentary retinopathy OMIM:616606
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 11
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... OMIM:600138
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Vitreoretinopathy, Ret... OMIM:193235
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Hypogonadotropic hypogonadism, Hypogonadism, ... ORPHA:1173
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Furrowed tongue, Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dysplasia, R... OMIM:251270
Leber Congenital Amaurosis 1
Hepatomegaly, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cryptorchidism, Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Polycystic o... ORPHA:3085
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Anterior hypopituitarism ORPHA:480
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... ORPHA:49382
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Stargardt Disease
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... ORPHA:827
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Microcephaly-Cardiomyopathy Syndrome
High, narrow palate, Abnormality of retinal pigmentation ORPHA:2515
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Senior-Loken Syndrome 8
Macular atrophy, Pancreatic cysts, Hepatic cysts OMIM:616307
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal thinning, Hyperautofluore... OMIM:617123
Retinitis Pigmentosa 7
Attenuation of retinal blood vessels, Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Nephronophthisis 13
Pancreatic cysts, Retinal dystrophy, Hepatic cysts OMIM:614377
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Microphthalmia, Isolated 5
Abnormality of skin pigmentation, Optic disc drusen, Rod-cone dystrophy, Retinal pigment epitheli... OMIM:611040
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:619007
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Pigmentary retinopathy, Abnormality of the tongue muscle, Facial palsy, Micropenis ORPHA:370968
Diprosopus
Abnormality of retinal pigmentation, Cleft palate ORPHA:1681
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Laurence-Moon Syndrome
Scrotal hypoplasia, Micropenis, Pigmentary retinopathy OMIM:245800
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Perlman Syndrome
Cryptorchidism, Hepatomegaly, Hypoplasia of penis, Abnormal pancreas morphology, High, narrow palate ORPHA:2849
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia... OMIM:601346
Retinitis Pigmentosa 9
Macular atrophy, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180104
Retinitis Pigmentosa 19
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... OMIM:601718
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 88
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618826
Beckwith-Wiedemann Syndrome
Cryptorchidism, Macroglossia, Enlarged kidney, Gonadoblastoma, Hepatomegaly, Pancreatic hyperplas... OMIM:130650
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Vitreoretinopathy, Paravenous chorioretinal atrophy OMIM:172870
Birt-Hogg-Dubé Syndrome
Parathyroid adenoma, Abnormality of retinal pigmentation ORPHA:122
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Generalized bone demineralization, Rickets, Rickets of the lower limbs, Thin bony cortex, Delayed... OMIM:600785
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Macroglossia, Pigmentary retinopathy, Facial palsy, Left ventricular hypertrophy,... OMIM:613156
Retinitis Pigmentosa 2
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312600
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Cofs Syndrome
Hypogonadism, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Retinitis Pigmentosa 87 With Choroidal Involvement
Chorioretinal atrophy, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618697
Retinitis Pigmentosa 6
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:312612
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Retinitis Pigmentosa 4
Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Abnormality of retinal pigmentation, Cardiomegaly ORPHA:858
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... OMIM:618144
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Hypophosphatemic rickets, Osteomalacia OMIM:193100
Pancreatic Agenesis 2
Pancreatic hypoplasia, Steatorrhea OMIM:615935
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal spleen morphology, Duodenal stenosis, Aplasia... ORPHA:2470
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Pigmentary retinopathy, Pancreatitis OMIM:606721
Duodenal Atresia
Duodenal atresia, Abnormality of the pancreas, Annular pancreas ORPHA:1203
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Patent ductus arteriosus, Hepatomegaly, Jaundice, Splenomegaly ORPHA:290
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Fundus atrophy OMIM:204100
Jeune Syndrome
Abnormality of retinal pigmentation, Abnormality of the liver ORPHA:474
Eem Syndrome
Abnormality of retinal pigmentation, Retinopathy, Macular dystrophy ORPHA:1897
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Retinopathy, Pigmentary, And Mental Retardation
Hypogonadism, Pigmentary retinopathy OMIM:268050
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretinal atrophy, He... ORPHA:5
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Pancreatic Agenesis 1
Pancreatic hypoplasia, Exocrine pancreatic insufficiency OMIM:260370
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Mitchell-Riley Syndrome
Biliary atresia, Intestinal malrotation, Jejunal atresia, Cholestasis, Duodenal atresia, Pancreat... OMIM:615710
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of the liver ORPHA:44
African Iron Overload
Peritonitis, Micronodular cirrhosis, Viral hepatitis, Esophageal carcinoma, Elevated hepatic iron... ORPHA:139507
Sjögren-Larsson Syndrome
Generalized hyperpigmentation, Macular degeneration, Abnormality of retinal pigmentation, Retinop... ORPHA:816
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Abnormality of retinal pigmentation, Submucous cleft hard palate, Cleft palate ORPHA:2521
Ramon Syndrome
Abnormality of retinal pigmentation, Narrow palate ORPHA:3019
Eiken Syndrome
Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip movement, Limited el... ORPHA:79106
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Rod-cone dystrophy, Pigmentary retinopathy, Polycystic ovaries OMIM:268020
Retinitis Pigmentosa 41
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:612095
Retinal Venous Beading
Retinal neovascularization, Retinal infarction, Vitreous hemorrhage, Abnormal distribution of ret... OMIM:180080
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, W... ORPHA:79435
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180100
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Pigmentary retinopathy, Anterior hypopituitarism, Breast hypoplasia, Hypoplas... ORPHA:2235
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis ORPHA:1390
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:618613
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy, External genital hypoplasia OMIM:600151
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Chorioretinal coloboma, Abnormality of retinal pigmentation, Macular coloboma ORPHA:2196
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Bardet-Biedl Syndrome
Cryptorchidism, Pigmentary retinopathy, Hepatic fibrosis, Hypoplasia of penis, Hypogonadism, Hypo... ORPHA:110
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Bull's eye... OMIM:604116
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Desmoid Tumor
Abnormality of retinal pigmentation, Malabsorption, Intestinal obstruction, Intestinal polyposis ORPHA:873
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Hardikar Syndrome
Mottled pigmentation, Pigmentary retinopathy, Intestinal malrotation, Patent ductus arteriosus, H... OMIM:612726
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Hypercholanemia, Familial 1
Rickets OMIM:607748
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Brushfield spots, Pigmentary retinopathy, Intrahepatic biliary dysgenesis, Hepato... OMIM:614866
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, R... OMIM:145350
Aceruloplasminemia
Abnormality of retinal pigmentation, Elevated hepatic iron concentration, Retinal degeneration, A... ORPHA:48818
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Narp Syndrome
Rod-cone dystrophy, Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Optic dis... ORPHA:644
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the re... OMIM:613810
Retinitis Pigmentosa 83
Asteroid hyalosis, Attenuation of retinal blood vessels, Cystoid macular edema, Vitreous floaters... OMIM:618173
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture OMIM:179800
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Brushfield spots, Pigmentary retinopathy, Intrahepatic biliary dysgenesis, Hypopl... OMIM:214110
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Cone/cone-rod dystrophy, Abnormality of the optic nerve, Ret... OMIM:605549
Micro Syndrome
Cryptorchidism, Abnormality of retinal pigmentation, Retinal coloboma, Clitoral hypoplasia, Hypop... ORPHA:2510
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed e... OMIM:300554
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Steatorrhea, Pancreatic calcification, ... OMIM:167800
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Pancreatic cysts, Hepatic cysts, Polysplenia, Intestinal malrotation,... OMIM:208540
Fanconi Renotubular Syndrome 2
Rickets, Osteopenia OMIM:613388
Leber Congenital Amaurosis 15
Pigmentary retinopathy, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Optic disc pallor OMIM:613843
Leigh Syndrome
Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy OMIM:256000
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:613464
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trab... OMIM:600081
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Vitiligo, Male hypogonadism, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Ch... OMIM:240300
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Abnormality of retinal pigmentation, Albinism, Freckling, Hypopigmentation... ORPHA:79434
Mulibrey Nanism
Hepatomegaly, Microglossia, Cardiomegaly, Pigmentary retinopathy OMIM:253250
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Pyropoikilocytosis, Hereditary
Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis OMIM:266140
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613756
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmentation of the ret... OMIM:602772
Arthrogryposis, Distal, Type 5
High palate, Abnormality of retinal pigmentation OMIM:108145
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
High palate, Pigmentary retinopathy ORPHA:329336
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Intermittent jaundice, Pyropoikilocytosis, Decreased me... OMIM:617948
Joubert Syndrome 8
Hepatomegaly, Optic disc pallor, Prolonged neonatal jaundice, Pigmentary retinopathy OMIM:612291
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Exocrine ... ORPHA:456312
Feingold Syndrome
Patent ductus arteriosus, Esophageal atresia, Duodenal atresia, Abnormality of the spleen, Annula... ORPHA:1305
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Retinal detachment ORPHA:35737
Retinitis Punctata Albescens
Macular atrophy, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of re... ORPHA:52427
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Von Hippel-Lindau Syndrome
Retinal capillary hemangioma, Pheochromocytoma, Pancreatic cysts, Epididymal cyst, Papillary cyst... OMIM:193300
Retinitis Pigmentosa 58
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613617
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Blotching pigme... OMIM:560000
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Hypocalcemic Vitamin D-Resistant Rickets
Osteolysis, Bone cyst, Recurrent fractures, Coarse metaphyseal trabecularization, Osteomalacia, A... ORPHA:93160
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Abnormality of peripheral nerve ... ORPHA:585
Juvenile Paget Disease
Melanocytic nevus, Abnormality of retinal pigmentation, Optic atrophy ORPHA:2801
Wolfram Syndrome 1
Testicular atrophy, Optic atrophy, Pigmentary retinopathy OMIM:222300
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Pancreatic cysts, Periportal fibrosis, Hepatic cysts, Esophageal varix, Hepatome... OMIM:263200
Acute Zonal Occult Outer Retinopathy
Vitritis, Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal pigment epithelial... ORPHA:284454
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Geographic atrophy, Optic disc pallor OMIM:180105
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossi... OMIM:241530
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Attenuation of retinal blood... OMIM:609033
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Patent ductus arteriosus, Cholestasis, Right ventricular hyp... OMIM:267010
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemic rickets, Pathologic fracture, Osteomalacia ORPHA:157215
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hepatic steatosis, Absent vas deferens, Jaundice, Bicornuate uterus, Papillary cystadenoma of the... ORPHA:93111
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy, Splenomegaly ORPHA:773
Vici Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, High palate, Optic atrophy, Hyp... ORPHA:1493
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Macroglossia, Brushfield spots, Pigmentary retinopathy, Clitoral hypertrophy, Pat... OMIM:214100
Congenital Alveolar Capillary Dysplasia
Intestinal malrotation, Aganglionic megacolon, Patent ductus arteriosus, Anal atresia, Asplenia, ... ORPHA:210122
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Opt... OMIM:600132
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615986
Atelosteogenesis Type I
Retinal dysplasia, Malrotation of colon, Abnormal pancreatic duct morphology, Cleft palate ORPHA:1190
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia ORPHA:89937
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Cohen Syndrome
Bull's eye maculopathy, Decreased response to growth hormone stimuation test, Optic atrophy, High... OMIM:216550
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Cone-Rod Dystrophy 2
Retinal pigment epithelial atrophy, Chorioretinal atrophy, Cone/cone-rod dystrophy, Macular hyper... OMIM:120970
Dent Disease 1
Rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossification, Sp... OMIM:300009
17Q12 Microdeletion Syndrome
Cryptorchidism, Shawl scrotum, Pancreatic aplasia ORPHA:261265
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration ORPHA:79264
Pearson Marrow-Pancreas Syndrome
Malabsorption, Pancreatic fibrosis OMIM:557000
Mucopolysaccharidosis, Type Ii
Macroglossia, Abnormality of retinal pigmentation, Papilledema, Intestinal pseudo-obstruction, He... OMIM:309900
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Pancreatic cysts, Epididymal cyst, Adrenal pheochromocytoma, Papill... ORPHA:892
Neurocutaneous Melanocytosis
Chorioretinal coloboma, Abnormality of retinal pigmentation, Melanocytic nevus, Numerous congenit... ORPHA:2481
Campomelia, Cumming Type
Pancreatic cysts, Hepatomegaly, Abnormality of the pancreas, Cleft palate, Abnormal intestine mor... ORPHA:1318
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Kearns-Sayre Syndrome
Hypoparathyroidism, Pigmentary retinopathy OMIM:530000
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Increased hepatocellular lipid droplets, Hepatomegaly, High palate, Optic... OMIM:220110
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trab... OMIM:264700
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Optic nerve hypoplasia OMIM:609069
Meckel Syndrome
Urethral atresia, Cryptorchidism, Ambiguous genitalia, Abnormal chorioretinal morphology, Accesso... ORPHA:564
Alstrom Syndrome
Multinodular goiter, Chronic active hepatitis, Hypergonadotropic hypogonadism, Hepatic steatosis,... OMIM:203800
Vitamin D-Dependent Rickets, Type 2A
Rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trab... OMIM:277440
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Cancer-Associated Retinopathy
Vitritis, Prostate cancer, Retinal atrophy, Retinal pigment epithelial atrophy, Granular macular ... ORPHA:71505
Prolidase Deficiency
Hepatomegaly, Abnormality of retinal pigmentation, White forelock, Splenomegaly ORPHA:742
Igg4-Related Submandibular Gland Disease
Prostatitis, Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland morphology, Enlargem... ORPHA:449432
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2518
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Osteomalacia, Increased susceptibility to fractures, Thin bony cortex, Delayed epiphysea... ORPHA:289157
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreat... OMIM:610199
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Diffuse hepatic steatosis ORPHA:436271
Cohen Syndrome
Abnormality of skin pigmentation, Cryptorchidism, Abnormality of retinal pigmentation, Aplasia/Hy... ORPHA:193
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Cholestasis, Left ventricular hypertrophy, Hypoparathyroidism, Diffuse he... ORPHA:746
Enhanced S-Cone Syndrome
Retinoschisis, Macular edema, Vitreoretinopathy, Pigmentary retinopathy OMIM:268100
Werner Syndrome
Abnormality of retinal pigmentation, Ovarian neoplasm, Premature graying of hair, Abnormal testis... ORPHA:902
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231226
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Recurrent fractures, Osteomalacia, Joint stiffness, Increa... ORPHA:2176
Aicardi Syndrome
Abnormality of skin pigmentation, Hiatus hernia, Abnormality of retinal pigmentation, Chorioretin... ORPHA:50
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231214
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Abnormal retinal vascular morphology, Hypopig... ORPHA:2715
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of skin pigmentation, Ambiguous genitalia, Abnormality of retinal pigmentation, Chori... ORPHA:2556
Mody
Hepatocellular adenoma, Pancreatic hypoplasia, Retinopathy, Exocrine pancreatic insufficiency ORPHA:552
Classic Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor ORPHA:216866
Dextrocardia
Meckel diverticulum, Abnormal reproductive system morphology, Intestinal malrotation, Pancreatic ... ORPHA:1666
Cockayne Syndrome Type 1
Cryptorchidism, Male hypogonadism, Pigmentary retinopathy, Hepatomegaly, Absent brainstem auditor... ORPHA:90321
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Pancreatic fibrosis, Retinal degeneration, Hepatic fi... OMIM:208500
Jacobsen Syndrome
Cryptorchidism, Chorioretinal coloboma, Clitoral hypoplasia, Macular hypoplasia, Optic atrophy, H... OMIM:147791
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas OMIM:608189
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets OMIM:611590
Zika Virus Disease
Macular atrophy, Absent foveal reflex, Optic disc hypoplasia, Chorioretinal atrophy, Retinal pigm... ORPHA:448237
Spondyloepimetaphyseal Dysplasia, Krakow Type
High palate, Patent ductus arteriosus, Annular pancreas OMIM:618162
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Isolated Succinate-Coq Reductase Deficiency
Left ventricular hypertrophy, Pigmentary retinopathy ORPHA:3208
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Pigmentary retinopathy, Chordee, Clitoral hypertrophy, Hypoplasia of the uterus, Anal ... OMIM:309801
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Enthesitis, Incr... ORPHA:289176
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Cholestasis OMIM:609015
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
High palate, Increased circulating prolactin concentration, Pigmentary retinopathy, Optic disc pa... ORPHA:502423
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Polysplenia, Hypoplastic colon, Hypoplasia of the small intestine, Pancreatic fi... OMIM:200995
Myopathy, Mitochondrial, And Ataxia
High palate, Increased circulating prolactin concentration, Pigmentary retinopathy OMIM:617675
Xeroderma Pigmentosum, Complementation Group B
Freckling, Pigmentary retinopathy, Decreased nerve conduction velocity, Hypogonadism, Optic atrophy OMIM:610651
Dermatosparaxis Ehlers-Danlos Syndrome
Osteoporosis, Rickets, Joint hyperflexibility, Osteomalacia, Joint stiffness, Osteopenia ORPHA:1901
Bohring-Opitz Syndrome
Narrow palate, Hyperechogenic pancreas, Intestinal malrotation, Abnormality of the optic nerve, C... OMIM:605039
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets OMIM:612089
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Steatorrhea, Hepatomegaly, High palate OMIM:617941
Classic Homocystinuria
Abnormality of retinal pigmentation, Esophageal varix, Hepatomegaly, Retinal detachment, High pal... ORPHA:394
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Pigmentary retinopathy, Abnormal sen... ORPHA:88628
Trisomy 18
Cryptorchidism, Abnormal morphology of female internal genitalia, Abnormality of retinal pigmenta... ORPHA:3380
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Hamartoma of tongue, Intestinal malrotation, Pancreatic fibrosis, Retinal dy... OMIM:263520
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Melanocytic nevus, Multiple cafe-au-lait spots, Short hard p... ORPHA:1969
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ambiguous genitalia, Pancreatic fibrosis OMIM:615503
Histiocytosis-Lymphadenopathy Plus Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Patent ductus arteriosus, Hepatomegaly, Hypertrichot... OMIM:602782
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Osteoarthritis, Osteomalacia OMIM:307800
Abetalipoproteinemia
Cirrhosis, Abnormality of retinal pigmentation, Hepatic steatosis, Steatorrhea, Hepatomegaly, Hep... ORPHA:14
Hereditary Chronic Pancreatitis
Jaundice, Pancreatic calcification, Recurrent pancreatitis ORPHA:676
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Steatorrhea, Pancreatic fibrosis, Hepatic fibrosis, Hepatomegaly, Shawl scrotum OMIM:616263
Pearson Syndrome
Median cleft lip and palate, Exocrine pancreatic insufficiency, Pigmentary retinopathy, Hepatic s... ORPHA:699
Coffin-Lowry Syndrome
High palate, Abnormality of retinal pigmentation, Optic atrophy, Narrow palate ORPHA:192
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Cockayne Syndrome A
Abnormality of skin pigmentation, Cryptorchidism, Pigmentary retinopathy, Decreased nerve conduct... OMIM:216400
Chromosome 6Pter-P24 Deletion Syndrome
High palate, Anal atresia, Patent ductus arteriosus, Pigmentary retinopathy OMIM:612582
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Cleft palate OMIM:619074
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption, Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:96180
Feingold Syndrome 1
Accessory spleen, Polysplenia, Patent ductus arteriosus, Esophageal atresia, Duodenal atresia, As... OMIM:164280
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Hepatic steatosis, Pigmentary retinopathy ORPHA:71212
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... ORPHA:790
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Autosomal Dominant Cerebellar Ataxia
Azoospermia, Pigmentary retinopathy, Retinal degeneration, Macular degeneration, Tongue atrophy ORPHA:99
Melas
Vitiligo, Pigmentary retinopathy, Intestinal pseudo-obstruction, Recurrent pancreatitis, Hypogona... ORPHA:550
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Macroglossia, Enlarged kidney, Patent ductus arteriosus, Opt... ORPHA:505248
Fibrous Dysplasia Of Bone
Osteolysis, Patchy reduction of bone mineral density, Rickets, Fibrous dysplasia of the bones, Os... ORPHA:249
Fanconi Anemia, Complementation Group D2
Abnormality of skin pigmentation, Cryptorchidism, Hypergonadotropic hypogonadism, Patent ductus a... OMIM:227646
Dent Disease
Rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossification, Sp... ORPHA:1652
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cryptorchidism, Patent ductus arteriosus, Furrowed tongue, Duodenal atresia, Multiple cafe-au-lai... OMIM:616975
Cystinosis, Nephropathic
Hypopigmentation of hair, Male hypogonadism, Exocrine pancreatic insufficiency, Pigmentary retino... OMIM:219800
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Aganglionic megacolon, Hepatomegaly, Abnormality of the panc... ORPHA:175
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Retinopathy, Reduced pancreatic beta cells ORPHA:99885
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormality of the hepatic vasculature, Nodular regenerative hyperplasia of liver, Retinal cotton... ORPHA:247691
Cockayne Syndrome
Cryptorchidism, Abnormality of retinal pigmentation, Retinal atrophy, Pigmentary retinopathy, Dec... ORPHA:191
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Enlarged kidney, Pancreatic cysts, Hepatic cysts, Polycyst... ORPHA:730
Chédiak-Higashi Syndrome
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased n... ORPHA:167
Pancreatic Agenesis-Holoprosencephaly Syndrome
High palate, Absent gallbladder, Pancreatic aplasia ORPHA:556955
Neurofibromatosis Type 1
Cryptorchidism, Abnormality of retinal pigmentation, Chorioretinal coloboma, Freckling, Heterochr... ORPHA:636
Beckwith-Wiedemann Syndrome
Cryptorchidism, Macroglossia, Exocrine pancreatic insufficiency, Enlarged kidney, Pseudohypoparat... ORPHA:116
Alveolar Echinococcosis
Abnormality of mesentery morphology, Pancreatic cysts, Hepatic cysts, Biliary cirrhosis, Abnormal... ORPHA:284
Ramon Syndrome
Enlarged labia minora, Optic disc pallor, Narrow palate, Pigmentary retinopathy OMIM:266270
Wilson Disease
Osteoporosis, Joint hypermobility, Osteomalacia, Osteoarthritis OMIM:277900
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Macroglossia, Decreased nerve conduction velocity, Papillede... ORPHA:580
Kaposiform Lymphangiomatosis
Enlarged kidney, Pancreatic cysts, Abnormal spleen morphology, Splenomegaly, Hepatosplenomegaly ORPHA:464329
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Hypoplasia of the uterus, Epididymal cyst, Biliary tract abnor... OMIM:137920
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Enlarged kidney, Pancreatic cysts, Periportal fibrosis... ORPHA:731
Cockayne Syndrome B
Abnormality of skin pigmentation, Cryptorchidism, Pigmentary retinopathy, Decreased nerve conduct... OMIM:133540
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Ankyloglossia, Rod-cone dystrophy, Annular pancreas, Cleft palate ORPHA:488642
Orofaciodigital Syndrome I
Ovarian cyst, Tongue nodules, Pancreatic cysts, Hepatic cysts, Hepatic fibrosis, Bifid tongue, Lo... OMIM:311200
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Distal Monosomy 12Q
Biliary atresia, Patent ductus arteriosus, Esophageal atresia, Unilateral cryptorchidism, Congeni... ORPHA:96149
Bohring-Opitz Syndrome
Retinal atrophy, Cholelithiasis, Cardiomegaly, Cleft palate, Optic atrophy, Annular pancreas ORPHA:97297
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glossitis, Pigmentary retinopathy, Retinal degeneration, Jaundice, Abnormality of macular pigment... ORPHA:79282
Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Retinal flecks, Retinal degeneration, Optic atrophy, Bull's eye maculopat... ORPHA:157850
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Decreased amplitude of sensory action potentials, Retinal pigment epitheli... OMIM:618733
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Fanconi-Bickel Syndrome
Osteomalacia OMIM:227810
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:255210
Mccune-Albright Syndrome
Recurrent fractures, Aneurysmal bone cyst, Fibrous dysplasia of the bones, Osteomalacia, Polyosto... ORPHA:562
Mucopolysaccharidosis Type 3
Macroglossia, Pigmentary retinopathy, Retinal degeneration, Hepatomegaly, Cardiomegaly, Optic atr... ORPHA:581
X-Linked Hypophosphatemia
Craniosynostosis, Rickets, Generalized osteosclerosis, Enthesitis, Reduced bone mineral density, ... ORPHA:89936
Proteus Syndrome
Abnormality of skin pigmentation, Chorioretinal coloboma, Abnormality of retinal pigmentation, Ce... ORPHA:744
Cystinosis
Rickets ORPHA:213
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Premature graying of hair, High palate, Hypogonadism, Anteriorly placed anus, Ann... OMIM:268400
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Micronodular cirrhosis, Microvesicular hepatic steatosis, Pigmentary retinopathy, Nodular regener... ORPHA:404454
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation, Abnormality of peripheral somatosensory evoked potentials, A... ORPHA:466768
Trisomy 8P
Cryptorchidism, Malrotation of small bowel, Heterochromia iridis, Aplasia/Hypoplasia of the gallb... ORPHA:264450
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Fanconi-Bickel Syndrome
Rickets, Osteopenia ORPHA:2088
Alagille Syndrome 1
Cirrhosis, Exocrine pancreatic insufficiency, Reduced number of intrahepatic bile ducts, Pigmenta... OMIM:118450
Fryns Syndrome
Meckel diverticulum, Cryptorchidism, Bifid scrotum, Polysplenia, Intestinal malrotation, Esophage... OMIM:229850
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Retinal dystrophy, Abnormality of t... ORPHA:2526
Neu-Laxova Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Rickets, Flexion contracture, Osteomalacia, Ost... ORPHA:2671
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Aplasia/Hypoplasia of the gallbladder, Biliary atresia, Anteri... ORPHA:2255
Mucopolysaccharidosis Type 2, Severe Form
Abnormality of retinal pigmentation, Macroglossia, Papilledema, Abnormal foveal morphology, Optic... ORPHA:217085
1P36 Deletion Syndrome
Cryptorchidism, Hepatic steatosis, Abnormality of the spleen, Patent ductus arteriosus, Ocular al... ORPHA:1606
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thromb... OMIM:260400
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormality of retinal pigmentation, Macroglossia, Papilledema, Abnormal foveal morphology, Optic... ORPHA:217093
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Rickets, Osteomalacia ORPHA:309031
Hypophosphatemic Rickets
Rickets, Craniofacial osteosclerosis, Enthesitis, Fibrous dysplasia of the bones, Hyperostosis, O... ORPHA:437
Khan-Khan-Katsanis Syndrome
Patent ductus arteriosus, Pigmentary retinopathy OMIM:618460
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Distal Renal Tubular Acidosis
Rickets, Reduced bone mineral density, Osteomalacia, Increased susceptibility to fractures ORPHA:18
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Ovarian neoplasm, Premature graying of hair, Abnormal testis... ORPHA:79474
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Jacobsen Syndrome
Cryptorchidism, Intestinal malrotation, Ectopic anus, Duodenal atresia, Abnormality of the anus, ... ORPHA:2308
Rajab Interstitial Lung Disease With Brain Calcifications 1
Joint laxity, Rickets, Reduced bone mineral density, Thin bony cortex, Osteopenia OMIM:613658
Heart Defects, Congenital, And Other Congenital Anomalies
Truncus arteriosus, Biliary atresia, Intestinal malrotation, Patent ductus arteriosus, Pancreatic... OMIM:600001
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy OMIM:277400
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cryptorchidism, Biliary hyperplasia, Cholelithiasis, Hepatomegaly, Pancreatic hypoplasia, Cleft p... ORPHA:83617
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets OMIM:212750
Orofaciodigital Syndrome Type 1
Exocrine pancreatic insufficiency, Tongue nodules, Pancreatic cysts, Hamartoma of tongue, Abnorma... ORPHA:2750
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Pancreatic cysts, Hepatosplenomegaly, Aplasia of the uterus OMIM:274000
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Steatorrhea, Hypopituitarism, Hepatomegaly, Pancreatic hypopla... ORPHA:811