Gene Summary

Name:
serine (or cysteine) peptidase inhibitor, clade F, member 1
Synonyms:
Sdf3,  pigment epithelium derived factor,  Pedf,  EPC-1,  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
abnormal spleen morphology Serpinf1tm1e.1(KOMP)Wtsi HOM Early adult 0.00
decreased mean corpuscular hemoglobin concentration Serpinf1tm1e.1(KOMP)Wtsi HOM Early adult 1.12×10-09

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 0.73% (4 of 545)
aorta 0.18% (1 of 541)
bone 0.0%
brain 0.92% (5 of 546)
brainstem 0.19% (1 of 540)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 533)
cecum 4.87% (17 of 349)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 542)
esophagus 1.3% (5 of 384)
eye 0.0%
gall bladder 0.0%
heart 0.37% (2 of 547)
hippocampus 0.37% (2 of 540)
hypothalamus 0.37% (2 of 534)
kidney 4.63% (25 of 540)
large intestine 5.56% (30 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 546)
lung 0.18% (1 of 546)
lymph node 0.18% (1 of 547)
mammary gland 0.0%
mesenteric lymph node 0.34% (1 of 292)
olfactory lobe 0.36% (2 of 555)
oral epithelium 0.0%
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.93% (5 of 540)
parathyroid gland 0.0%
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 560)
prostate gland 2.03% (11 of 541)
skeletal muscle 0.0%
skin 0.19% (1 of 539)
small intestine 5.04% (27 of 536)
spinal cord 0.57% (3 of 529)
spleen 0.56% (3 of 539)
stomach 3.42% (19 of 555)
striatum 0.37% (2 of 547)
testis 1.1% (6 of 545)
thymus 0.18% (1 of 546)
thyroid gland 2.93% (16 of 546)
trachea 0.54% (3 of 557)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.36% (2 of 554)
vas deferens 4.18% (15 of 359)
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.

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of left fundus

16 Images

Eye Morphology

VIP of right fundus

16 Images

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
Joint laxity, Increased susceptibility to fractures 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
Testicular torsion, Torsion of appendix of testis OMIM:187400
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Pigmentary retinopathy OMIM:609016
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Retinal degeneration, Hypoplasia of penis,... OMIM:275400
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice OMIM:613977
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:615990
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Hypoplasia of penis, O... ORPHA:791
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613758
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Supernumerary nipple ORPHA:1433
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Diffuse hepatic steatosis OMIM:264470
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Leber Congenital Amaurosis 1
Hepatomegaly, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen, Fu... OMIM:204000
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Ri... OMIM:146300
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Supernumerary nipple, Hypogonadotropic hypogonadism, Optic a... ORPHA:1173
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Cleft palate, Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Bi... ORPHA:506353
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Congenital hepatic fibrosis ORPHA:3156
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation, Anterior hypopituitarism ORPHA:480
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Rod-cone dystrophy, Pigmentary retinopathy, Abnormality of the liver OMIM:614307
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ab... OMIM:251270
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Abnormality of retinal pigmentation, Furrowed tongue ORPHA:2743
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:614180
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613801
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Decreased testicular size, P... ORPHA:3085
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Hypophosphatemic Bone Disease
Osteomalacia, Rickets OMIM:146350
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation, High, narrow palate ORPHA:2515
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... OMIM:608133
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Congenital Muscular Dystrophy With Intellectual Disability
Micropenis, Facial palsy, Pigmentary retinopathy, Cryptorchidism, Abnormality of the tongue muscle ORPHA:370968
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, High, narrow palate, Hypoplasia of penis, Cryptorchidism ORPHA:2849
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Laurence-Moon Syndrome
Pigmentary retinopathy, Small scrotum, Micropenis OMIM:245800
Martinez-Frias Syndrome
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Hypospadia... OMIM:601346
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hepatoblastoma, Macroglossia, Pancreatic hyperplasia, Enlarged kidney, Gonadoblasto... OMIM:130650
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony co... OMIM:600785
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation, Parathyroid adenoma ORPHA:122
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... ORPHA:215
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hypogonadism ORPHA:1466
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Micropenis, Left ventricular hypertrophy, Facial palsy, Pigmentary retinopathy, Cry... OMIM:613156
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormality of retinal pigmentation, Abnormal macular morphology, Hypo... ORPHA:897
Diprosopus
Abnormality of retinal pigmentation, Cleft palate ORPHA:1681
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Congenital Toxoplasmosis
Abnormality of retinal pigmentation, Hepatomegaly, Jaundice, Cardiomegaly ORPHA:858
Retinitis Pigmentosa 4
Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:312612
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Osteomalacia, Rickets OMIM:193100
Pancreatic Agenesis 2
Pancreatic hypoplasia, Steatorrhea OMIM:615935
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Ring Chromosome 14 Syndrome
High palate, Pigmentary retinopathy OMIM:616606
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of ... ORPHA:2470
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... ORPHA:848
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Jaundice ORPHA:290
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Hepatomegaly, Abnormality of retinal pigmentation, Retinopathy, Chorio... ORPHA:5
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy, Hypogonadism OMIM:268050
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Retinal infarction, Vitreous hemorrhage,... OMIM:180080
Jeune Syndrome
Abnormality of retinal pigmentation, Abnormality of the liver ORPHA:474
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Biliary atresia, Intestinal malrotation, Chole... OMIM:615710
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of the liver ORPHA:44
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Bardet-Biedl Syndrome 3
External genital hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation, Bifid uvula, Cleft palate, Submucous cleft hard palate ORPHA:2521
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Sjögren-Larsson Syndrome
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... ORPHA:816
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal bone ossification, Abnormal trabecular bone morphology,... ORPHA:79106
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly ORPHA:163596
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:600105
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis ORPHA:1390
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Ramon Syndrome
Abnormality of retinal pigmentation, Narrow palate ORPHA:3019
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic atrophy, ... OMIM:300578
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Hypergonadotropic hypogonadism, Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypoplasia of penis, Pigmentary retinopathy, Hepatic fibrosis, Hypogonad... ORPHA:110
Bardet-Biedl Syndrome 6
External genital hypoplasia, Rod-cone dystrophy, Hypospadias, Pigmentary retinopathy, Vaginal atr... OMIM:605231
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Rod-cone dystrophy, Hypogon... ORPHA:2235
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Hypercholanemia, Familial 1
Rickets OMIM:607748
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... OMIM:312600
Renal Tubular Acidosis Iii
Osteomalacia, Rickets OMIM:267200
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:260370
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Cone-Rod Dystrophy 3
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... OMIM:604116
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Senior-Loken Syndrome 8
Rod-cone dystrophy, Intrahepatic bile duct dilatation, Retinal dystrophy, Hepatic cysts, Macular ... OMIM:616307
Desmoid Tumor
Intestinal obstruction, Malabsorption, Abnormality of retinal pigmentation, Intestinal polyposis ORPHA:873
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Retinitis Pigmentosa 56
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... OMIM:613581
Retinitis Pigmentosa 46
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:612572
Narp Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... ORPHA:644
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Cleft palate, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Pi... OMIM:614866
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... OMIM:145350
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613464
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Pancreatic c... OMIM:167800
Aceruloplasminemia
Abnormality of retinal pigmentation, Abnormal pancreas morphology, Retinal degeneration, Macular ... ORPHA:48818
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... OMIM:613810
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... OMIM:618173
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... OMIM:180105
Micro Syndrome
High palate, Abnormality of retinal pigmentation, Hypoplasia of penis, Retinal coloboma, Clitoral... ORPHA:2510
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hyperpigmented nevi, Blue irides, Heterochromia iridis, Hypo... ORPHA:79432
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Pigmentary retinopathy, Hypogona... ORPHA:79095
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony cortex, R... OMIM:600081
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Jaundice, Cleft palate, Hypoplasia of the thymus, Pigmentary retinopathy, Optic ner... OMIM:214110
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Recurrent frac... OMIM:300554
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... OMIM:605549
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets OMIM:613388
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Intestinal malrotation, Cirrhosis, Pancreatic fibrosis, Hyperechogeni... OMIM:208540
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
High palate, Pigmentary retinopathy ORPHA:329336
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hepatomegaly, Decreased sensory nerve conduction velocity, Apl... ORPHA:456312
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Mulibrey Nanism
Microglossia, Hepatomegaly, Pigmentary retinopathy, Cardiomegaly OMIM:253250
Leigh Syndrome
Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy OMIM:256000
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis OMIM:266140
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Pancreatic calcification, P... ORPHA:103918
Joubert Syndrome 8
Optic disc pallor, Hepatomegaly, Pigmentary retinopathy, Prolonged neonatal jaundice OMIM:612291
Arthrogryposis, Distal, Type 5
High palate, Abnormality of retinal pigmentation OMIM:108145
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture OMIM:179800
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... OMIM:602772
Retinitis Pigmentosa 49
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:613756
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... ORPHA:79434
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ... OMIM:617948
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Attenuation of retinal blood ves... OMIM:609033
Yellow Fever
Acute pancreatitis, Pancreatic hyperplasia, Jaundice ORPHA:99829
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Multiple bony cystic lesions, Mandibular osteomyelitis, Abnormal trabecu... ORPHA:83451
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Osteomalacia, Abnormal bone structure, Osteolysis, Coarse metaphy... ORPHA:93160
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:300029
Feingold Syndrome
Annular pancreas, Duodenal atresia, Abnormality of the spleen, Patent ductus arteriosus, Esophage... ORPHA:1305
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Optic atrophy, Abnormality of pe... ORPHA:585
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Hepatomegaly, Pigmentary retinopathy OMIM:560000
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Hypophosphatemic rickets, Sparse bone trabeculae, Recurrent frac... OMIM:241530
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... ORPHA:52427
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Perifoveal ring of hyperautofluorescence, Chronic active hepa... OMIM:240300
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Bicornuate uterus, Papillary cystadenoma of the epi... ORPHA:93111
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Micropenis, Cone/cone-rod dystrophy, Macular atrophy, B... OMIM:615994
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Pathologic fracture, Hypophosphatemic rickets, Osteomalacia, Reduced bone mineral density ORPHA:157215
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Wolfram Syndrome 1
Optic atrophy, Testicular atrophy, Pigmentary retinopathy OMIM:222300
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... ORPHA:231222
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Volvulus, Abse... ORPHA:210122
Vici Syndrome
High palate, Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation o... ORPHA:1493
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Retinitis Pigmentosa 72
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... OMIM:616469
Refsum Disease
Retinopathy, Abnormality of retinal pigmentation, Splenomegaly ORPHA:773
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Campomelia, Cumming Type
Polycystic liver disease, Polysplenia, Pancreatic cysts OMIM:211890
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610283
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... OMIM:600132
Zika Virus Disease
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... ORPHA:448237
Bardet-Biedl Syndrome 1
High palate, Retinal degeneration, Rod-cone dystrophy, High, narrow palate, Vaginal atresia, Left... OMIM:209900
17Q12 Microdeletion Syndrome
Pancreatic aplasia, Cryptorchidism, Shawl scrotum ORPHA:261265
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Malrotation of colon, Retinal dysplasia, Cleft palate ORPHA:1190
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets ORPHA:89937
Cohen Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Optic atrophy, Bone s... OMIM:216550
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... OMIM:615986
Fanconi Renotubular Syndrome 1
Osteomalacia, Rickets OMIM:134600
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Dent Disease 1
Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin ... OMIM:300009
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony cortex, R... OMIM:264700
Werner Syndrome
Abnormality of retinal pigmentation, Ovarian neoplasm, Aplasia/Hypoplasia of the testes, Hypogona... ORPHA:902
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... OMIM:120970
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration ORPHA:79264
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Sialadenitis, Prostatitis, Xerostomia, Abnormal salivary gland morp... ORPHA:449432
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Hepatomegaly, High, narrow palate, Macroglossia, Hypospadias, Pigmentary retinopathy... OMIM:214100
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Numerous congenital melanocytic nevi, Generalized hyperpigme... ORPHA:2481
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Glycogen Storage Disease Ib
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Inflamma... OMIM:232220
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Optic nerve hypoplasia OMIM:609069
Mucopolysaccharidosis, Type Ii
Abnormality of retinal pigmentation, Hepatomegaly, Macroglossia, Splenomegaly, Papilledema, Hepat... OMIM:309900
Kearns-Sayre Syndrome
Hypoparathyroidism, Pigmentary retinopathy OMIM:530000
Meckel Syndrome
Urethral atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, Pancreatic fibrosis, Male pseud... ORPHA:564
Mody
Pancreatic hypoplasia, Retinopathy, Exocrine pancreatic insufficiency, Hepatocellular adenoma ORPHA:552
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:615233
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulation test, Hy... OMIM:203800
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin bony cortex, Increase... ORPHA:289157
Prolidase Deficiency
White forelock, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly ORPHA:742
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony cortex, R... OMIM:277440
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets OMIM:211600
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Chromosome 8Q21.11 Deletion Syndrome
High palate, Cleft palate, Micropenis, Pigmentary retinopathy, Cryptorchidism OMIM:614230
Enhanced S-Cone Syndrome
Retinoschisis, Macular edema, Pigmentary retinopathy, Vitreoretinopathy OMIM:268100
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Granular macular appearance, Uterine neoplasm, Prostate cancer, Testicu... ORPHA:71505
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Infantile Systemic Hyalinosis
Joint stiffness, Recurrent fractures, Osteopenia, Camptodactyly of finger, Osteomalacia, Osteopor... ORPHA:2176
Cohen Syndrome
Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the tongue, High, narrow palate, Optic... ORPHA:193
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Pancreatic fibrosis, Sclerosi... ORPHA:64744
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Aicardi Syndrome
Malabsorption, Abnormality of retinal pigmentation, Hiatus hernia, Hepatoblastoma, Cleft palate, ... ORPHA:50
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification OMIM:608189
Dextrocardia
Intestinal malrotation, Abnormality of the spleen, Pancreatic hypoplasia, Abnormal reproductive s... ORPHA:1666
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Diffuse hepatic steatosis, Hepatomegaly, Pigmentary retinopathy ORPHA:436271
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:216866
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnormal retinal ... ORPHA:2715
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... ORPHA:231214
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration, Polycystic liver disease, Pancreatic fibrosis, Hepatic fibrosis, Bile duct ... OMIM:208500
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Left ventricular hypertrophy, Pigmentary retinopathy, Cholestasis, Diffuse he... ORPHA:746
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
High palate, Hepatomegaly, Pigmentary retinopathy, Optic atrophy, Increased hepatocellular lipid ... OMIM:220110
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Hiatus hernia, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic... OMIM:610199
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets OMIM:611590
Isolated Succinate-Coq Reductase Deficiency
Left ventricular hypertrophy, Pigmentary retinopathy ORPHA:3208
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hepatomegaly, Hypermelanotic macule, Pigmentary retinopathy,... ORPHA:90321
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Recurrent fractures, Rickets OMIM:268315
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of the anus, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnorma... ORPHA:2556
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Papillary cystadenoma of the epididymis, Pheochromocytoma, Hepatic hema... OMIM:193300
Hypophosphatemic Rickets, X-Linked Dominant
Osteoarthritis, Hypophosphatemic rickets, Osteomalacia, Rickets OMIM:307800
Jacobsen Syndrome
Annular pancreas, Labial hypoplasia, Hypospadias, Clitoral hypoplasia, Optic atrophy, Pyloric ste... OMIM:147791
Chromosome 6Pter-P24 Deletion Syndrome
High palate, Anal atresia, Patent ductus arteriosus, Pigmentary retinopathy OMIM:612582
Dermatosparaxis Ehlers-Danlos Syndrome
Joint stiffness, Osteopenia, Osteomalacia, Osteoporosis, Joint hyperflexibility, Rickets ORPHA:1901
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Patent ductus arteriosus, High palate OMIM:618162
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Enlarged... OMIM:200995
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cleft palate, Micropenis, Intestinal malrotation, Pancreatic fibrosis, Retinal dystrophy, Hamarto... OMIM:263520
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... ORPHA:289176
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Meckel Syndrome, Type 7
Right ventricular hypertrophy, Hepatosplenomegaly, Cholestasis, Patent ductus arteriosus, Portal ... OMIM:267010
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Abnormal sensory nerve conduction velocity, Pigmentary r... ORPHA:88628
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Splenomegaly, Enlarged kidney, Hepatic cysts, Esophageal varix... OMIM:263200
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Cholestasis OMIM:609015
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased circulating prolactin concentration, Optic disc pallor, High palate, Pigmentary retinop... ORPHA:502423
Cone-Rod Dystrophy 6
Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... OMIM:601777
Nephronophthisis 13
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:614377
Myopathy, Mitochondrial, And Ataxia
Increased circulating prolactin concentration, High palate, Pigmentary retinopathy OMIM:617675
Bohring-Opitz Syndrome
Narrow palate, Supernumerary nipple, Intestinal malrotation, Hyperechogenic pancreas, Bilateral c... OMIM:605039
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis, Ambiguous genitalia OMIM:615503
Hardikar Syndrome
Hepatomegaly, Cholestasis, Esophageal varix, Prolonged neonatal jaundice, Bile duct proliferation... OMIM:301068
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy, Freckling, Hypogonadism OMIM:610651
Feingold Syndrome 1
Annular pancreas, High palate, Duodenal atresia, Tracheoesophageal fistula, Accessory spleen, Pat... OMIM:164280
Classic Homocystinuria
High palate, Abnormality of retinal pigmentation, Hepatomegaly, Retinal detachment, Optic atrophy... ORPHA:394
Hereditary Chronic Pancreatitis
Pancreatic calcification, Jaundice, Recurrent pancreatitis ORPHA:676
Trisomy 18
Anal atresia, Abnormality of retinal pigmentation, Narrow palate, Cleft palate, Abnormal morpholo... ORPHA:3380
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Splenomegaly, Hypergonadotro... OMIM:602782
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Steatorrhea, Pancreatic fibrosis, Hepatic fibrosis, Shawl scrotum, Hepatic steatosis OMIM:616263
Shwachman-Diamond Syndrome 2
High palate, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hyperechogenic pancreas OMIM:617941
Linear Skin Defects With Multiple Congenital Anomalies 1
Anal atresia, Chordee, Hypoplasia of the uterus, Cleft palate, Micropenis, Hypospadias, Pigmentar... OMIM:309801
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Cleft palate OMIM:619074
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Generalized hypopigmentation, Short hard palate, Melanocytic... ORPHA:1969
Pearson Syndrome
Hypoparathyroidism, Exocrine pancreatic insufficiency, Hepatomegaly, Decreased response to growth... ORPHA:699
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Coffin-Lowry Syndrome
Optic atrophy, Abnormality of retinal pigmentation, High palate, Narrow palate ORPHA:192
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Abetalipoproteinemia
Abnormality of retinal pigmentation, Hepatomegaly, Rod-cone dystrophy, Steatorrhea, Cirrhosis, He... ORPHA:14
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Hypertensive retinopathy, Papilledema, Papillary cystadenoma of the epi... ORPHA:892
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Hepatic steatosis, Pigmentary retinopathy ORPHA:71212
Fanconi Anemia, Complementation Group D2
Annular pancreas, Micropenis, Hypergonadotropic hypogonadism, Tracheoesophageal fistula, Patent d... OMIM:227646
Dent Disease
Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Osteomalacia, Thin ... ORPHA:1652
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormality of the hepatic vasculature, Abnormal retinal vascular morphology, Macular edema, Reti... ORPHA:247691
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Campomelia, Cumming Type
Hepatomegaly, Cleft palate, Abnormality of the pancreas, Abnormal intestine morphology, Pancreati... ORPHA:1318
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Fat malabsorption, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:96180
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Autosomal Dominant Cerebellar Ataxia
Retinal degeneration, Macular degeneration, Pigmentary retinopathy, Tongue atrophy, Azoospermia ORPHA:99
Melas
Hypoparathyroidism, Hypogonadotropic hypogonadism, Pigmentary retinopathy, Optic atrophy, Vitilig... ORPHA:550
Fibrous Dysplasia Of Bone
Fibrous dysplasia of the bones, Osteomalacia, Thin bony cortex, Abnormal bone structure, Patholog... ORPHA:249
Retinoblastoma
Abnormality of retinal pigmentation, Vitreous hemorrhage, Retinoblastoma, Cleft palate, Heterochr... ORPHA:790
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, ... ORPHA:85167
Cockayne Syndrome A
Hepatomegaly, Decreased nerve conduction velocity, Splenomegaly, Retinal pigment epithelial mottl... OMIM:216400
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Reduced pancreatic beta cells, Retinopathy ORPHA:99885
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, High palate, Duodenal atresia, Multiple cafe-au-lait spots, Hypospadias, Optic ... OMIM:616975
Pancreatic Agenesis-Holoprosencephaly Syndrome
High palate, Pancreatic aplasia, Absent gallbladder ORPHA:556955
Cartilage-Hair Hypoplasia
Malabsorption, Abnormality of retinal pigmentation, Hepatomegaly, Abnormality of the pancreas, Ag... ORPHA:175
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Macroglossia, Hepatosplenomegaly, Enlarged kidney, Optic atr... ORPHA:505248
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas, Ankyloglossia, Cleft palate, Rod-cone dystrophy ORPHA:488642
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Cr... ORPHA:116
Chédiak-Higashi Syndrome
Spotty hyperpigmentation, Abnormality of retinal pigmentation, Decreased nerve conduction velocit... ORPHA:167
Cockayne Syndrome
Abnormality of retinal pigmentation, Hepatomegaly, Decreased nerve conduction velocity, Retinal d... ORPHA:191
Cystinosis
Rickets ORPHA:213
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate ute... OMIM:137920
Ramon Syndrome
Optic disc pallor, Enlarged labia minora, Narrow palate, Pigmentary retinopathy OMIM:266270
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Neurofibromatosis Type 1
Precocious puberty, Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, Pheochromoc... ORPHA:636
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Hepatomegaly, Decreased nerve conduction velocity, Retinal d... ORPHA:580
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Cleft palate, Optic atrophy, Retinal atrophy, Cardiomegaly ORPHA:97297
Distal Monosomy 12Q
Annular pancreas, Pituitary adenoma, Congenital hypertrophy of left ventricle, Duodenal atresia, ... ORPHA:96149
Neuromuscular Oculoauditory Syndrome
Retinal pigment epithelial mottling, Decreased amplitude of sensory action potentials, Chorioreti... OMIM:618733
Pantothenate Kinase-Associated Neurodegeneration
Retinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy, Retinal flecks, Optic atrophy, ... ORPHA:157850
Fanconi-Bickel Syndrome
Osteomalacia OMIM:227810
Mccune-Albright Syndrome
Recurrent fractures, Monostotic fibrous dysplasia, Fibrous dysplasia of the bones, Osteomalacia, ... ORPHA:562
Cockayne Syndrome B
Hepatomegaly, Decreased nerve conduction velocity, Splenomegaly, Micropenis, Pigmentary retinopat... OMIM:133540
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Retinal degeneration, Abnormality of macular pigmentation, Pigmentary retinopathy, Optic atrophy,... ORPHA:79282
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Mucopolysaccharidosis Type 3
Malabsorption, Hepatomegaly, Retinal degeneration, Rod-cone dystrophy, Splenomegaly, Macroglossia... ORPHA:581
X-Linked Hypophosphatemia
Reduced bone mineral density, Craniosynostosis, Arthritis, Vertebral hyperostosis, Generalized os... ORPHA:89936
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Malabsorption, Hepatomegaly, Steatorrhea, Pancreatic fibrosis,... OMIM:557000
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, High palate, Premature graying of hair, Anteriorly placed anus, Hypogonadism, C... OMIM:268400
Fanconi-Bickel Syndrome
Osteopenia, Rickets ORPHA:2088
Congenital Bile Acid Synthesis Defect Type 2
Rickets ORPHA:79303
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets ORPHA:309031
Trisomy 8P
Annular pancreas, Cleft palate, Micropenis, Malrotation of small bowel, Bifid uvula, Aplasia/Hypo... ORPHA:264450
Fryns Syndrome