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Gene: Mitf MGI:104554

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

melanogenesis associated transcription factor

Synonyms:

bHLHe32, mi, Gsfbcc2, wh, BCC2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mitf mutations

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

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

Human diseases associated with Mitf (8 diseases)
Human diseases predicted to be associated with Mitf (2666 diseases)

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

Disease	Matching phenotypes	Source
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th...	ORPHA:42665
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis	OMIM:103500
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Cataract, Posteriorly rotated ears, Micrognathia, Congenital sens...	OMIM:617306
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:897
Familial Melanoma	Abnormal hair morphology, Freckling	ORPHA:618
Melanoma, Cutaneous Malignant, Susceptibility To, 8		OMIM:614456

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

Disease	Matching phenotypes	Source
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules	OMIM:615674
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Dyschromatosis Universalis Hereditaria 1	Hyperpigmented/hypopigmented macules	OMIM:127500
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Dyschromatosis Symmetrica Hereditaria	Hyperpigmented/hypopigmented macules	OMIM:127400
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Cafe-Au-Lait Spots, Multiple	Multiple cafe-au-lait spots	OMIM:114030
Lentiginosis, Inherited Patterned	Hypermelanotic macule	OMIM:151001
Hairy Palms And Soles	Hypermelanotic macule	OMIM:139650
Dowling-Degos Disease 1	Progressive reticulate hyperpigmentation	OMIM:179850
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Acroleukopathy, Symmetric	Symmetric great toe depigmentation	OMIM:102000
Hyperpigmentation, Familial Progressive, 1	Hyperpigmentation of the skin	OMIM:614233
Nasal Hyperpigmentation, Familial Transverse	Hyperpigmentation of the skin	OMIM:161530
Hyperpigmentation Of Fuldauer And Kuijpers	Hyperpigmentation of the skin	OMIM:145200
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th...	ORPHA:42665
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis	OMIM:103500
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia, Ankyloblepharon	ORPHA:85275
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Book Syndrome	Premature graying of hair	OMIM:112300
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Dyschromatosis Universalis Hereditaria	Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait...	ORPHA:241
Nevus, Epidermal	Melanocytic nevus	OMIM:162900
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypopigm...	OMIM:619165
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod...	OMIM:617294
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Deafness, Congenital, With Total Albinism	Albinism	OMIM:220900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Cataract, Corneal opacity, Alopecia, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal iris pigmentation, Abnormal corneal endothelium morphology, Pig...	ORPHA:69736
Diamond-Blackfan Anemia 17	Hyperpigmentation of the skin	OMIM:617409
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Vogt-Koyanagi-Harada Disease	Retinal detachment, Abnormal eyebrow morphology, Sparse scalp hair, Short stature, Poliosis, Abno...	ORPHA:3437
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus	ORPHA:2435
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, White forelock	ORPHA:2779
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Decreased liver function, Polycystic kidney dysplasia	OMIM:600666
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho...	OMIM:601706
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased...	OMIM:618061
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia, Polycystic kidney dysplasia	OMIM:211890
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation, Cataract, Infertility, Hearing impairment	OMIM:300719
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Woolly Hair	Hypopigmentation of hair, Cataract, Slow-growing hair, Abnormal retinal morphology, Brittle hair,...	ORPHA:170
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation	OMIM:620199
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair, Intention tremor	OMIM:190200
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Osteo...	OMIM:615085
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hypopigmented skin patches, Hyperpigmentation of the skin	ORPHA:2819
Dowling-Degos Disease 2	Hypomelanotic macule, Reticular hyperpigmentation	OMIM:615327
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Persistent pupillary membrane, Woolly sca...	ORPHA:79414
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Orbital cyst	OMIM:251505
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme...	OMIM:611584
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
Oculomotor-Levator Synkinesis	Ptosis, Eyelid retraction, Abnormal eyelid morphology	OMIM:151610
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Adult-Onset Foveomacular Vitelliform Dystrophy	Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation	ORPHA:99000
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Abnormality of the dentition, Osteoporosis, ...	OMIM:300604
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Retinal detachment, Optic disc pallor, Short stature, Chorio...	OMIM:251270
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris...	OMIM:309300
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha...	OMIM:613095
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Retinitis Pigmentosa 40	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo...	OMIM:613801
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy...	OMIM:227010
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Liberfarb Syndrome	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Optic disc pallor, ...	OMIM:618889
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Cataract, Posteriorly rotated ears, Micrognathia, Congenital sens...	OMIM:617306
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St...	OMIM:616307
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig...	ORPHA:69125
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Cryptorchidism, Abnormal antihelix morphology, Chorioretinal coloboma, Hearing impairment	OMIM:274205
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Griscelli Syndrome Type 1	Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation	ORPHA:79476
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Glucocorticoid Deficiency 3	Hyperpigmentation of the skin	OMIM:609197
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:616428
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Optic disc pallor, Increased bone mineral density, Recurrent fract...	OMIM:611490
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ...	ORPHA:79397
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Nephrotic syndrome, Membr...	OMIM:618999
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch...	OMIM:602114
Foveal Hypoplasia-Presenile Cataract Syndrome	Generalized hyperpigmentation, Optic atrophy, Cataract	ORPHA:2253
Macular Dystrophy, Patterned, 3	Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Ankylosing Vertebral Hyperostosis With Tylosis	Vertebral hyperostosis	OMIM:106400
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Premature Ovarian Failure 12	Macular dystrophy, Microphthalmia	OMIM:616947
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia	OMIM:183300
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Abnormality of skin...	ORPHA:2222
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c...	OMIM:613731
Calvarial Hyperostosis	Calvarial hyperostosis	OMIM:302030
Progressive Hemifacial Atrophy	Irregular hyperpigmentation, Heterochromia iridis	ORPHA:1214
Spermatogenic Failure 17	Male infertility	OMIM:617214
Gemignani Syndrome	Sensorineural hearing impairment, Hypopigmented skin patches	ORPHA:2074
Oliver-Mcfarlane Syndrome	Central heterochromia, Alopecia, Decreased response to growth hormone stimulation test, Long eyeb...	OMIM:275400
Loose Anagen Syndrome	Abnormal hair morphology, Abnormal hair whorl, Iris coloboma	ORPHA:168
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp...	ORPHA:89838
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Hypopigmentation of the skin	OMIM:610798
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Depi...	ORPHA:352731
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Anonychia	OMIM:106750
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi...	OMIM:607634
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Renal cyst, Increased total bilirubin	OMIM:174050
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal...	OMIM:208540
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Insulin-Resistance Syndrome Type A	Generalized hyperpigmentation, Generalized hirsutism	ORPHA:2297
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring...	OMIM:600059
Trichodentoosseous Syndrome	Increased bone mineral density, Abnormal hair morphology, Taurodontia, Widely spaced teeth, Micro...	OMIM:190320
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Ankyloblepharon	OMIM:611038
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Increa...	ORPHA:2924
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Ermine Phenotype	Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p...	ORPHA:999
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ...	OMIM:131960
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Hypercalcemia, Nephrolithiasis, Papillary renal c...	OMIM:145001
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Methionine Malabsorption Syndrome	White hair, Blue irides	OMIM:250900
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy	OMIM:603649
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Irregular hyperpigmentation	ORPHA:1336
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Cataract	ORPHA:35737
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia, Cryptophthalmos, Ankyloblepharon	OMIM:123570
Horner Syndrome, Congenital	Heterochromia iridis	OMIM:143000
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, R...	OMIM:610951
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract...	OMIM:259710
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Fair hair	OMIM:618808
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Hepatic cysts	OMIM:613819
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy...	ORPHA:79399
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Ridged fingernail, Hypopigmented skin patches, Protruding ear, Fingernail dysplasia, Sp...	ORPHA:2251
Osteomesopyknosis	Increased bone mineral density, Infertility	OMIM:166450
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Isolated Osteopoikilosis	Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ...	ORPHA:166119
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy, Astigmatism	OMIM:268060
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Bullous Dystrophy, Hereditary Macular Type	Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail	OMIM:302000
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Dentin Dysplasia	Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Aniridia, Microcornea, Cataract	OMIM:106230
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Stargardt Disease 3	Macular dystrophy, Macular atrophy, Macular flecks	OMIM:600110
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Giant melanosomes in melanoc...	ORPHA:54
Edict Syndrome	Keratoconus, Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract	OMIM:614303
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def...	OMIM:619172
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Usher Syndrome Type 3	Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Vestibular ...	ORPHA:231183
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Fingernail dysplasia, Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis	ORPHA:1259
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis, Telecanthus	ORPHA:1522
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal fingernail morphology, Conical to...	ORPHA:2228
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy	OMIM:600790
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Albinism, Oculocutaneous, Type V	Albinism	OMIM:615312
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Retinopathy Of Prematurity	Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog...	ORPHA:90050
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Giant melanosomes in melanocytes, Adult onset sensorineural hearing impairment, Albinism	OMIM:300650
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Abnormal eyebrow morphology, Decreased fertility, Hypodontia, Generali...	ORPHA:1816
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Patchy...	ORPHA:1433
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ...	OMIM:616108
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Macular Dystrophy, Vitelliform, 2	Macular dystrophy, Cystoid macular degeneration, Subretinal fluid	OMIM:153700
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Osteopetrosis, Cafe-au-lait spot, Hypopigme...	OMIM:618541
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Spastic Paraplegia 23, Autosomal Recessive	Hyperpigmentation in sun-exposed areas, Multiple lentigines, Premature graying of body hair, Viti...	OMIM:270750
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Spermatogenic Failure 81	Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R...	OMIM:620277
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen...	ORPHA:79133
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty...	ORPHA:3152
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, Abnormality iris morphology...	ORPHA:1617
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S...	OMIM:267010
Exudative Vitreoretinopathy 5	Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment	OMIM:613310
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Epicanthus, Increased bone mineral density, Micrognathia, High, narrow...	ORPHA:2780
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun...	OMIM:619902
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Multiple lentigines, Short stature, Vitiligo	ORPHA:101003
Osteopetrosis, Autosomal Recessive 9	Papilledema, Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fractu...	OMIM:620366
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Epicanthus, Abnormal reti...	ORPHA:1390
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Pigmentary retinopathy, Short stature, Cerebral atrophy	OMIM:619090
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Albinism, Ocular, Type I	Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus	OMIM:300500
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the t...	ORPHA:400
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Meckel Syndrome, Type 6	Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of the bladder, H...	OMIM:612284
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Abnormality of retinal pigmentation, Juvenile cataract, Sparse hair	ORPHA:1264
Axial Osteomalacia	Polycystic liver disease, Elevated circulating creatine kinase concentration, Renal cyst	OMIM:109130
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Growth delay, Pigmentary retinopathy, Long eyelashes, Sparse hair, Retinal degeneration	ORPHA:3363
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Facial palsy, Craniosy...	OMIM:259700
Eem Syndrome	Abnormality of retinal pigmentation, Absent eyebrow, Sparse scalp hair, Macular dystrophy, Retino...	ORPHA:1897
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Optic disc pallor, Corpus callosum atrophy, Retinal pigment epithelial mottli...	OMIM:619389
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation, Short stature, Intrauterine growth retardation	ORPHA:2515
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Corticospinal tract atrophy	OMIM:551500
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Multiple Mitochondrial Dysfunctions Syndrome 5	Growth delay, Pigmentary retinopathy	OMIM:617613
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante...	ORPHA:3214
Waardenburg Syndrome, Type 3	Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ...	OMIM:148820
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:897
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Hermansky-Pudlak Syndrome 4	Hypoplasia of the fovea, Ocular albinism, Menorrhagia, Albinism	OMIM:614073
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Phenylketonuria	Generalized hypopigmentation, Fair hair, Blue irides, Cataract	OMIM:261600
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Otodental Syndrome	Lens coloboma, Microcornea, Periodontitis, Otitis media with effusion, Abnormal dental pulp morph...	ORPHA:2791
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Congenital Glaucoma	Retinal detachment	ORPHA:98976
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Synophrys, Hirsutism, Gingival overgrowt...	ORPHA:2026
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Usher Syndrome Type 1	Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction,...	ORPHA:231169
Osteoglosphonic Dysplasia	Craniosynostosis, Micrognathia, Cryptorchidism, Tooth agenesis, Multiple unerupted teeth, Abnorma...	ORPHA:2645
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Horner syndrome, Patchy...	OMIM:141300
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Myopic astigmatism, Ocula...	OMIM:614077
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Metrorrhagia, Albinism, Ocular albinism, Iris transillumination defect, ...	OMIM:614074
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Multip...	ORPHA:1318
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Rubinstein-Taybi Syndrome 2	Syndactyly, Epicanthus, Broad hallux, Highly arched eyebrow, Micrognathia, Carious teeth, Talon c...	OMIM:613684
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse scalp hair, Abnormal fingernai...	ORPHA:2325
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Moderately short stature, Central retinal vessel vascular to...	ORPHA:506353
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy	OMIM:608850
Ocular Albinism With Late-Onset Sensorineural Deafness	Sensorineural hearing impairment, Ocular albinism	ORPHA:1000
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Spastic Paraparesis And Deafness	Cataract, Hypogonadism, Hearing impairment	OMIM:312910
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Growth delay, Absent specific antibody response, Decreased circulating antibody level, Vitiligo	OMIM:619846
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Microcoria, Uveal ectropion, Hypoplasia...	OMIM:609049
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Hypermelanotic macule	OMIM:154800
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Best Vitelliform Macular Dystrophy	Choroideremia, Cystoid macular degeneration	ORPHA:1243
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Hypoplastic toenails, Short metatar...	OMIM:166250
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia	OMIM:614859
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Synophrys, Gingiv...	ORPHA:2025
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Bornholm Eye Disease	Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia	OMIM:300843
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Micrognathia, Joint stiff...	ORPHA:1466
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Pancreatic cysts...	OMIM:208500
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, B...	ORPHA:1473
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract	ORPHA:65
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment	OMIM:147610
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Xeroderma Pigmentosum Variant	Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin	ORPHA:90342
Retinitis Pigmentosa Inversa With Deafness	Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Hearing impairment	OMIM:120433
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Deafness-Vitiligo-Achalasia Syndrome	Sensorineural hearing impairment, Hypopigmented skin patches	ORPHA:3239
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ...	ORPHA:3032
Marbach-Rustad Progeroid Syndrome	Femur fracture, Delayed eruption of primary teeth, Micrognathia, Narrow mouth, Reduced bone miner...	OMIM:619322
Epidermolysis Bullosa Acquisita	Abnormal hair morphology, Nail dystrophy, Hyperpigmentation of the skin	ORPHA:46487
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Immunodeficiency 10	Hypoplasia of the iris, Nail dysplasia	OMIM:612783
Glycogen Storage Disease Iv	Portal hypertension, Hepatosplenomegaly, Cirrhosis, Hepatic failure, Tubulointerstitial fibrosis	OMIM:232500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Microcephaly-Microcornea Syndrome, Seemanova Type	Epicanthus, Upslanted palpebral fissure, High palate, Hypogonadism, Narrow mouth, Microphthalmia,...	ORPHA:2528
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Recurrent otitis...	OMIM:615993
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Corpus callosum atrophy, Optic atrophy, Low anterior hairline, Cerebral atrophy, Abnormality of v...	ORPHA:480898
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Porphyria Cutanea Tarda, Type I	Hyperpigmentation of the skin, Hypertrichosis	OMIM:176090
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Tricho-Dento-Osseous Syndrome	Abnormal hair quantity, Dental enamel pits, Increased bone mineral density, Periapical tooth absc...	ORPHA:3352
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ...	OMIM:204000
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal arterial macroaneurysms	OMIM:614224
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology	ORPHA:370091
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
WAGR 11p13 deletion syndrome	Aniridia	DECIPHER:35
Ectodermal Dysplasia, Trichoodontoonychial Type	Irregular hyperpigmentation of back, Abnormal eyelash morphology, Melanocytic nevus, Sparse hair,...	ORPHA:1818
Congenital Microcoria	Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A...	ORPHA:566
Stickler Syndrome Type 2	Retinal detachment, Retinopathy, Abnormal vitreous humor morphology	ORPHA:90654
Flynn-Aird Syndrome	Increased bone mineral density, Alopecia, Joint stiffness, Carious teeth, Osteoporosis, Increased...	OMIM:136300
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Tibiofibular diastasis, Joint stiffness...	ORPHA:566943
Deafness, Congenital, With Vitiligo And Achalasia	Short stature, Vitiligo	OMIM:221350
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality...	OMIM:300476
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha...	OMIM:193500
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Neovascular Glaucoma	Retinal detachment, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Re...	ORPHA:94058
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Iris hypopigmentation, White hair, Ocular albinism, Generalized hypopigmentation, Heari...	ORPHA:2720
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy	ORPHA:3156
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Coxa valga, Ab...	OMIM:269300
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Stickler Syndrome, Type I, Nonsyndromic Ocular	Optically empty vitreous, Rhegmatogenous retinal detachment	OMIM:609508
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Microphthalmia, Syndromic 13	Ptosis, Anteverted ears, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Wide...	OMIM:300915
Lelis Syndrome	Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Nail dystrophy, Sparse hair, Ab...	ORPHA:140936
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98797
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Deafness-Hypogonadism Syndrome	Abnormality of the internal auditory canal, Stapes ankylosis, Abnormality of the middle ear ossic...	ORPHA:90646
Indolent Systemic Mastocytosis	Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology	ORPHA:98848
Aniridia 3	Aniridia, Cataract	OMIM:617142
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79477
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Abruzzo-Erickson Syndrome	Epicanthus, Sensorineural hearing impairment, Cleft palate, Microcornea, Coloboma, Radioulnar syn...	ORPHA:921
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl...	ORPHA:2790
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Obesity And Hypopigmentation	Red hair	OMIM:620195
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism, Hypopigmentation of the fundus	OMIM:614171
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral fusion, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocorn...	OMIM:206900
Oculocerebrocutaneous Syndrome	Alopecia, Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital cyst, Cleft palate, E...	OMIM:164180
Srd5A3-Cdg	Cataract, Optic disc hypoplasia, Microcytic anemia, Abnormal hair morphology, Optic atrophy, Hype...	ORPHA:324737
Gms Syndrome	Rieger anomaly	ORPHA:2090
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Renal cyst, Cholest...	OMIM:610199
Microphthalmia With Limb Anomalies	Anophthalmia, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5t...	OMIM:206920
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Coloboma, Retinal dysplasia	ORPHA:324416
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middl...	ORPHA:63442
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Severe short-limb dwarfism	ORPHA:436182
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi...	OMIM:162000
Amyloidosis, Primary Localized Cutaneous, 3	Generalized hyperpigmentation, Hypermelanotic macule	OMIM:617920
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,...	ORPHA:284
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Abnormally large globe, Micrognathia, Hypoplasia of the maxilla, Widely...	ORPHA:363417
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Melanocytic nevus, Fine hair, Macular degeneration, Abnormality ...	ORPHA:1573
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Ring Chromosome 14 Syndrome	Epicanthus, Almond-shaped palpebral fissure, Pigmentary retinopathy, High palate, Low-set ears, B...	OMIM:616606
3-Methylglutaconic Aciduria Type 4	Cataract, Iris hypopigmentation	ORPHA:67048
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Stickler Syndrome, Type V	Retinal detachment, Vitreoretinopathy, Short stature	OMIM:614284
Ramon Syndrome	Delayed eruption of teeth, Abnormality of retinal pigmentation, Abnormal dental enamel morphology...	ORPHA:3019
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Pheochrom...	OMIM:193300
Gombo Syndrome	Microphthalmia	OMIM:233270
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hearing abnormality, Cupped ear, Ocular albinism, Microtia, Microphthalmia	ORPHA:1352
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Epicanthus, Tented upper lip vermilion, Metaphyseal widening, Craniofacial osteosclerosis, Increa...	OMIM:618476
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Hear...	OMIM:610023
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Sparse hair, Hypoplasia of the primary ...	OMIM:257850
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost...	OMIM:259730
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Nathalie Syndrome	Sensorineural hearing impairment, Cataract	ORPHA:2663
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Cohen Syndrome	Abnormal eyelid morphology, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low ant...	ORPHA:193
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Hermansky-Pudlak Syndrome 7	Menorrhagia, Ocular albinism, Albinism	OMIM:614076
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Hypoplasia of the maxil...	OMIM:167730
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Short Syndrome	Posterior embryotoxon, Alopecia, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the ir...	ORPHA:3163
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Alopecia, Vitreous floaters, Poliosis, Vitritis, Retinal hemorrh...	ORPHA:79098
Camurati-Engelmann Disease, Type 2	Osteopenia, Hyperostosis, Knee flexion contracture, Hip contracture	OMIM:606631
Gillespie Syndrome	Hypoplasia of the iris, Aniridia	OMIM:206700
Baraitser-Winter Syndrome 2	Ptosis, Telecanthus, Thin upper lip vermilion, Abnormal pinna morphology, Highly arched eyebrow, ...	OMIM:614583
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Tremor, Pigmentary retinopathy, Rod-cone dystrophy, Intention tremor	OMIM:614307
Temple-Baraitser Syndrome	Tented upper lip vermilion, Hypoplastic thumbnail, Triangular shaped distal phalanx of the thumb,...	ORPHA:420561
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ...	ORPHA:83461
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Böök Syndrome	Premature graying of hair, Abnormal eyebrow morphology, Hypoplastic fingernail	ORPHA:1262
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasis, Tubulointers...	OMIM:615862
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Cryptorchidism, Sensorineural hearing impair...	ORPHA:2719
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Microphthalmia, Isolated 4	Microphthalmia, Coloboma	OMIM:613094
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Hermansky-Pudlak Syndrome 6	Albinism, Ocular albinism, Absent foveal reflex, Macular hypoplasia, Hypopigmentation of the skin	OMIM:614075
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Macular degene...	ORPHA:816
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Anodontia, Sandal gap, Increased bone mineral density, Short hallux, Pr...	ORPHA:90650
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, M...	ORPHA:290
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Developmental glaucoma	OMIM:206750
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Coloboma, Optic atrophy	OMIM:274270
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitial am...	ORPHA:85450
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Osteoporosis, Cone-shaped epiphysis, Short philtrum, Dentinogenesis im...	ORPHA:71267
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts	ORPHA:3033
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Trisomy 9P	Dental crowding, Hypoplastic toenails, Abnormal pupil morphology, Non-midline cleft lip, Protrudi...	ORPHA:236
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b...	ORPHA:79402
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Uv-Sensitive Syndrome 1	Freckling, Pigmentation anomalies of sun-exposed skin	OMIM:600630
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi...	OMIM:166750
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Decreased liver function, Renal cyst	OMIM:614870
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment...	ORPHA:158681
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Short Stature, Dauber-Argente Type	Long toe, Delayed eruption of teeth, Osteopenia, Arachnodactyly, Decreased fibular diameter, Long...	OMIM:619489
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Edinburgh Malformation Syndrome	Brushfield spots, Synophrys, Low posterior hairline, Aplasia/Hypoplasia affecting the eye, Genera...	ORPHA:1895
Spastic Paraparesis-Deafness Syndrome	Sensorineural hearing impairment, Cataract, Hypogonadism	ORPHA:2815
Filippi Syndrome	2-4 toe syndactyly, Cryptorchidism, Hypertrichosis, Cutaneous syndactyly, Finger clinodactyly, Th...	OMIM:272440
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Pigmentary retinopathy, Perifoveal ring of hyperautofluorescence, Nail dystrophy, Alope...	OMIM:240300
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Curly hai...	ORPHA:85184
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormality of retinal pigmentation, Bone spicule pigmentation of the retina, Rhegmatogenous reti...	ORPHA:364055
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr...	OMIM:212550
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
Frontonasal Dysplasia 1	Epicanthus, Median cleft lip, Cataract, Hypoplasia of the maxilla, Widow's peak, Hypoplastic fron...	OMIM:136760
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Cerebrooculonasal Syndrome	Epicanthus, Anophthalmia, Sparse eyelashes, Sparse eyebrow, Postaxial hand polydactyly, Upslanted...	ORPHA:66625
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Epicanthus, Increased bone mineral density, Coxa valga, Micrognathia, Wide anterior fontanel, Fla...	ORPHA:163649
Oculofaciocardiodental Syndrome	Microcornea, Oligodontia, Fused teeth, Iris coloboma, Highly arched eyebrow, Flexion contracture ...	ORPHA:2712
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Encephalocraniocutaneous Lipomatosis	Linear hyperpigmentation, Alopecia, Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Microph...	OMIM:613001
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Abnormally large globe, Micrognathia, Hypoplastic pubic bone, Gingiv...	OMIM:614592
Uv-Sensitive Syndrome 3	Freckling	OMIM:614640
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Increased bone mineral density, Facial palsy, Craniosynostosis, Optic atrophy, Hearing...	ORPHA:178377
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, S...	ORPHA:93323
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Ptosis, Epicanthus, Posteriorly rotated ears, Anophthalmia, Micrognathia, Cu...	ORPHA:264200
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Abcd Syndrome	White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal auditory evoked potentials, Albin...	OMIM:600501
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal femur morphology, Abnormal fib...	ORPHA:2063
Temtamy Syndrome	Telecanthus, Micrognathia, Thick lower lip vermilion, Joint hyperflexibility, Low-set ears, Chori...	ORPHA:1777
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks	OMIM:614323
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Fa...	OMIM:259720
Eiken Syndrome	Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b...	ORPHA:79106
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Macular degen...	OMIM:612095
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Osteopenia, Short metacarpal, Joint laxity, Camptodactyly of finger, T...	OMIM:612350
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration	OMIM:204200
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl...	OMIM:619719
Gapo Syndrome	Keratoconus, Epicanthus, Alopecia, Sparse eyelashes, Facial palsy, Micrognathia, Retinal arteriol...	OMIM:230740
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Macrotia, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Wagr Syndrome	Aplasia/Hypoplasia of the iris, Cataract	ORPHA:893
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia	ORPHA:1065
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Macular Dystrophy, Vitelliform, 3	Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ...	OMIM:608161
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Preeclampsia	Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El...	ORPHA:275555
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Ocular anterior segment dysge...	OMIM:614195
Acrodysostosis	Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Abnormality of the nail, Hypo...	ORPHA:950
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Optic atrophy, Hearing impairment	OMIM:165300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Epicanthus, Dental crowding, Tapered finger, Unilateral radial aplasia, Partial absence of thumb,...	ORPHA:476126
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Aland Island Eye Disease	Astigmatism, Albinism	OMIM:300600
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Fanconi Anemia, Complementation Group J	Multiple cafe-au-lait spots, Microphthalmia	OMIM:609054
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract, Cryptorchidism, Abnormal antihelix morphology, Chorioretinal coloboma, Hypoplasia of th...	ORPHA:2489
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Microcytic anemia, Optic atrophy, Abnormality of skin pigmentation, Coloboma, Low-set e...	OMIM:612379
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Thyrocerebrorenal Syndrome	Renal insufficiency, Euthyroid goiter, Nephritis	ORPHA:3327
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Intellectual Developmental Disorder, Autosomal Recessive 67	Coloboma, Sensorineural hearing impairment, Posteriorly rotated ears	OMIM:618295
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism	ORPHA:352723
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Cardiospondylocarpofacial Syndrome	High, narrow palate, Short palm, Failure of eruption of permanent teeth, Tooth malposition, Synos...	ORPHA:3238
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Genu v...	OMIM:300602
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Telecanthus, Anophthalmia, Abnormal spaced incisors, Synophrys, Low anterior hairline, Long eyela...	ORPHA:411986
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Multiple impacted teeth, Type E brachydactyl...	OMIM:113300
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Profuse pigmented skin lesions	ORPHA:280785
Deafness, X-Linked 7	Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis	OMIM:301018
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling, Beau's lines, Leukonychia	OMIM:234580
Spondylo-Ocular Syndrome	Retinal detachment, Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Cataract, Low po...	ORPHA:85194
Warburg Micro Syndrome 1	Micrognathia, Optic atrophy, Osteoporosis, Hypertrichosis, Developmental cataract, Microcornea, T...	OMIM:600118
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cryptorchidism, Orofacial cleft, Cleft palate, Widely-spa...	OMIM:601349
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener...	OMIM:611131
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Iris coloboma	OMIM:615147
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Diastem...	OMIM:605282
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Rocker bottom foot, Coxa valga, Micrognathia, Carious teeth, Cryptorch...	OMIM:214150
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Abruzzo-Erickson Syndrome	Cleft palate, Protruding ear, Coloboma, Radioulnar synostosis, Macrotia, Hearing impairment	OMIM:302905
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Abnormal cranial nerve morphology, Progressive hearing impairmen...	ORPHA:97229
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Canavan Disease	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Hermansky-Pudlak Syndrome 10	Macrotia, Ocular albinism, Low-set ears, Albinism	OMIM:617050
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Cataract, Ocular albinism, Melanocy...	ORPHA:79430
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Epicanthus, Abnormal fingernail morphology, Abnormal dental ena...	ORPHA:1515
Chediak-Higashi Syndrome	Hypopigmentation of hair, Decreased nerve conduction velocity, Silver-gray hair, Ocular albinism,...	OMIM:214500
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Narp Syndrome	Optic disc pallor, Short stature, Retinal arteriolar tortuosity, Retinal pigment epithelial mottl...	ORPHA:644
Ceroid Lipofuscinosis, Neuronal, 2	Retinal degeneration	OMIM:204500
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:620312
Immunodeficiency 7	Patchy alopecia, Vitiligo	OMIM:615387
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cataract, Cochlear degeneration	ORPHA:3233
Juvenile Paget Disease	Abnormality of retinal pigmentation, Coarse metaphyseal trabecularization, Recurrent fractures, A...	ORPHA:2801
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,...	ORPHA:2909
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse p...	OMIM:110100
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Griscelli Syndrome	Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, White hair, Hypopigme...	ORPHA:381
Infantile Sialic Acid Storage Disease	Fair hair, Hypopigmentation of the skin	OMIM:269920
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Odontochondrodysplasia 1	Delayed eruption of teeth, Short metacarpal, Brachydactyly, Metaphyseal widening, Osteoporosis, F...	OMIM:184260
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Premature graying of hair	OMIM:616371
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Abnormal hair morphology, Cone-shaped epip...	OMIM:250460
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
Autosomal Recessive Stickler Syndrome	Retinal detachment, Vitreoretinopathy, Short stature	ORPHA:250984
Spinocerebellar Ataxia 7	Pigmentary retinopathy, Macular degeneration, Optic atrophy	OMIM:164500
Laurence-Moon Syndrome	Pigmentary retinopathy, Short stature, Chorioretinal atrophy	OMIM:245800
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Cohen Syndrome	Short metacarpal, Bone spicule pigmentation of the retina, Joint hypermobility, Tapered finger, M...	OMIM:216550
D-Lactic Aciduria With Gout	Aniridia	OMIM:245450
Bresek Syndrome	Alopecia, Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate, Protruding ear, Low-set ea...	ORPHA:85284
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Desmosterolosis	Epicanthus, Increased bone mineral density, Micrognathia, Metatarsus adductus, Splenomegaly, Subm...	ORPHA:35107
Joubert Syndrome 28	Pigmentary retinopathy, Optic disc pallor, Highly arched eyebrow	OMIM:617121
Lethal Recessive Chondrodysplasia	Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow metaphyses	ORPHA:1423
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
X-Linked Intellectual Disability, Najm Type	Cataract, Optic nerve hypoplasia, Micrognathia, Sensorineural hearing impairment, Optic atrophy, ...	ORPHA:163937
Bardet-Biedl Syndrome 4	Cryptorchidism, Abnormality of the kidney, Renal cyst	OMIM:615982
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati...	OMIM:104100
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Joubert Syndrome 22	Microphthalmia, Coloboma, Retinal dysplasia	OMIM:615665
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Multiple renal cy...	ORPHA:464329
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna...	OMIM:613849
Cherubism	Macular scar, Marcus Gunn pupil, Optic neuropathy	OMIM:118400
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Mulibrey Nanism	Dental crowding, Corneal dystrophy, Absent frontal sinuses, Thickened cortex of long bones, Ename...	OMIM:253250
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,...	ORPHA:157
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu...	OMIM:243910
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Cerebral atrophy	ORPHA:397951
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Thrombocytopenia, Neutropenia, Multiple cafe-au-lait spots, Microphtha...	OMIM:614082
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Hypopigmented skin patches,...	ORPHA:1807
Microphthalmia, Syndromic 12	Anophthalmia, Micrognathia, Cryptorchidism, Cleft palate, Microphthalmia, Retrognathia	OMIM:615524
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Cranial nerve...	ORPHA:210110
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma	OMIM:600251
Rhyns Syndrome	Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis	ORPHA:140976
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Micrognathia, Cleft palate, Microphthalmia, Arthrogryposis multiplex congenita	OMIM:616570
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Posteriorly rotated ears, Albinism, Ocular albinism, Low-set ears...	OMIM:608233
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele...	ORPHA:100085
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebro...	OMIM:620157
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormality of cartilage of external ...	ORPHA:2399
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Morm Syndrome	Retinal atrophy, Retinal dystrophy, Cataract	ORPHA:75858
Lichen Planus Pemphigoides	Hypopigmented streaks, Abnormality of the nail	ORPHA:254478
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Short stature, Cerebral atrophy, Pigmentary retinopathy, Sparse hair, Rod-con...	OMIM:268020
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly	OMIM:608776
Microphthalmia, Isolated 6	Microphthalmia, Retinal fold	OMIM:613517
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Woolly hai...	OMIM:234050
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Sensorineural hearing impairment, Cataract, Developmental cataract	OMIM:613076
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Cryptorchidism, Synophrys, Downturned corners of mouth, Wide mouth, Wid...	OMIM:618067
Joint Laxity, Short Stature, And Myopia	Retinal detachment, Short stature, Chorioretinal coloboma	OMIM:617662
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, ...	ORPHA:53
Intestinal Botulism	Mydriasis	ORPHA:178481
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Darier Disease	Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of...	ORPHA:218
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:158029
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Alopec...	OMIM:600785
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Abnormal trabecular bone morphology, Splenomegaly, Optic atrophy, Osteopetrosis, Op...	OMIM:612301
Pierpont Syndrome	Joint laxity, Thin upper lip vermilion, Telecanthus, Cryptorchidism, Short toe, High anterior hai...	ORPHA:487825
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hepat...	OMIM:617872
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Epicanthus, Thin bony cortex, Recurrent fractures, ...	OMIM:277440
Facioscapulohumeral Muscular Dystrophy 1	Exudative retinal detachment, Facial palsy, Retinal telangiectasia	OMIM:158900
Premature Ovarian Failure 13	Oligomenorrhea, Female infertility, Amenorrhea	OMIM:617442
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Gingi...	ORPHA:137834
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Cat-Eye Syndrome	Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures, Iris coloboma, Hearing im...	ORPHA:195
Osteopetrosis With Renal Tubular Acidosis	Micrognathia, Cranial nerve compression, Leukopenia, High palate, Conductive hearing impairment, ...	ORPHA:2785
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, M...	ORPHA:858
Incontinentia Pigmenti	Ridged nail, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic, patchy alopeci...	OMIM:308300
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Cryptorchidism, Orofacial cleft, Microphthalmia	ORPHA:3434
Al-Raqad Syndrome	Hypopigmentation of the skin, Low-set ears	OMIM:616459
Branchio-Oculo-Facial Syndrome	Low-set, posteriorly rotated ears, Cataract, Abnormal pinna morphology, Upper lip pit, Deep philt...	ORPHA:1297
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Epicanthus, Limited wrist extension, Protruding...	OMIM:108145
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen...	OMIM:615986
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Micrognathia, High, na...	ORPHA:166108
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, High palate, Megalocornea, Bifid uvu...	OMIM:211380
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Telecanthus, Posteriorly rotated ears, Optic nerve hypoplasia, Cleft upper lip, Abnormal hair mor...	OMIM:607597
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Epidermolysis Bullosa, Junctional 4, Intermediate	Macular hyperpigmented dermopathy, Dental enamel pits, Carious teeth, Scarring alopecia of scalp,...	OMIM:619787
Lichen Planopilaris	Alopecia, Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:525
Neuhauser Syndrome	Hypoplasia of the iris, Iridodonesis, Megalocornea, Low anterior hairline	OMIM:249310
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Wide anter...	OMIM:619135
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Mandibular prognathia, Epicanthus, Toe syndactyly, Telecanthus, Camptodactyly of f...	ORPHA:1327
Lessel-Kubisch Syndrome	Sparse pubic hair, Premature graying of hair	OMIM:618681
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Papilledema, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial o...	OMIM:122860
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Thin upper lip vermilion, Everted upper lip vermilion, Optic nerve hypoplasia, Thick hair, Microg...	OMIM:618381
Catifa Syndrome	Delayed eruption of teeth, Epicanthus, Cleft lip, Cleft palate, Increased overbite, Long philtrum...	OMIM:618761
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Developmental cataract, Retinal atrophy, Iris coloboma, Posterior synechiae of the anterior chamber	OMIM:616722
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:617023
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Retinal detachment, Epicanthus, Thin upper lip vermilion, Corneal opacity,...	OMIM:152950
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Camptodactyly of finger, Malar prominence, Micrognathia, Osteoporo...	ORPHA:48431
Momo Syndrome	Delayed eruption of teeth, Thick upper lip vermilion, Epicanthus, Hyperconvex nail, Bilateral mic...	ORPHA:2563
Familial Cold Autoinflammatory Syndrome 3	Vitiligo	OMIM:614468
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr...	ORPHA:2863
Coloboma Of Macula With Type B Brachydactyly	Coloboma	OMIM:120400
Crouzon Syndrome	Ptosis, Hypoplasia of the maxilla, Optic atrophy, Hypopigmented skin patches, Narrow palate, Mela...	ORPHA:207
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Short stature, Supernumerary nipple	ORPHA:1173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Retinal dysplasia	OMIM:614830
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Proximal placement of thumb, Micrognathia, Downturned corners of mouth,...	ORPHA:93267
Donnai-Barrow Syndrome	Retinal detachment, Widow's peak, Retinal dystrophy	ORPHA:2143
Large Congenital Melanocytic Nevus	Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,...	ORPHA:626
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Short stature, Abnormal vitreous humor morphology, Exudative retinopathy, Exu...	ORPHA:2788
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Vitiligo	ORPHA:275
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic...	ORPHA:1988
Temtamy Syndrome	Dental crowding, Highly arched eyebrow, Lop ear, Micrognathia, Lens luxation, Ectopia lentis, Hyp...	OMIM:218340
Cockayne Syndrome Type 2	Mandibular prognathia, Anophthalmia, Hypermelanotic macule, Delayed eruption of primary teeth, Cr...	ORPHA:90322
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Short stature, Abnormal eyelash morphology, Optic atrophy, I...	ORPHA:2518
Acatalasemia	Vitiligo	ORPHA:926
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Hirsutism, Simp...	OMIM:619318
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Abnormal pupil mor...	ORPHA:233
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Neonatal Adrenoleukodystrophy	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Sensorineural h...	ORPHA:44
48,Xxyy Syndrome	Abnormal shoulder morphology, Clinodactyly of the 5th finger, Abnormal dental enamel morphology, ...	ORPHA:10
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Low-se...	OMIM:615145
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Microcornea, Absent inner eyelashes, Limbal dermoid, Microphthalmia, ...	ORPHA:1791
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation, Nail dysplasia	OMIM:225050
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Sparse hair, Short ph...	ORPHA:221008
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides	OMIM:614613
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Macrovesicular hepatic ...	OMIM:608836
Pierpont Syndrome	Telecanthus, Blepharophimosis, Long upper lip, Cryptorchidism, Short toe, High anterior hairline,...	OMIM:602342
Hartsfield Syndrome	Telecanthus, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasi...	ORPHA:2117
Stickler Syndrome, Type Ii	Retinal detachment, Abnormal vitreous humor morphology	OMIM:604841
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Telecanthus, Flared metaphysis, Delayed eruption of...	OMIM:218400
Pycnodysostosis	Ridged nail, Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinu...	OMIM:265800
Nivelon-Nivelon-Mabille Syndrome	Hypoplasia of the iris, Nail dysplasia	OMIM:600092
Classic Mycosis Fungoides	Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail	ORPHA:2584
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair	ORPHA:1810
Trisomy 12P	Aplasia/Hypoplasia of the iris, Thick eyebrow, Aplasia/Hypoplasia affecting the eye, Supernumerar...	ORPHA:1699
Aredyld Syndrome	Mandibular prognathia, Smooth philtrum, Craniofacial hyperostosis, Abnormal dental enamel morphol...	ORPHA:1133
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Brittle hair, Hyperpigmentation of the skin, Hypoplasia of the maxilla...	ORPHA:50814
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypopigmented skin patches	ORPHA:3143
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Low anterior hairline	OMIM:613153
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormally prominent line of Schwalbe	OMIM:109120
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Osteoporosis, Enamel hypoplasia, B...	OMIM:612463
Macular Degeneration, Age-Related, 3	Drusen, Macular degeneration, Choroidal neovascularization	OMIM:608895
Micro Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Micrognathia, J...	ORPHA:2510
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epitheli...	ORPHA:228308
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Ceroid Lipofuscinosis, Neuronal, 1	Macular degeneration, Optic atrophy, Retinal degeneration	OMIM:256730
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor...	ORPHA:98850
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin	OMIM:309400
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Sparse eyebrow, Abnormal soft p...	ORPHA:884
Blepharoptosis, Myopia, And Ectopia Lentis	Congenital ptosis, Increased axial length of the globe	OMIM:110150
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Coffin-Siris Syndrome 2	Low anterior hairline, High palate, Short philtrum, Cryptorchidism, Thick vermilion border, Absen...	OMIM:614607
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Hip contracture, Microretrognathia, Coxa valga, Micrognathia, Carious teet...	OMIM:618363
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Premature loss of prima...	ORPHA:667
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cranial hyperostosis, Hypoplast...	OMIM:601345
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup...	OMIM:112350
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis	OMIM:614441
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Free Sialic Acid Storage Disease	Abnormality of skin pigmentation, Iris hypopigmentation	ORPHA:834
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Sensorineural hearin...	ORPHA:53271
Trisomy 13	Anophthalmia, Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, High, ...	ORPHA:3378
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior chamber morpho...	ORPHA:2479
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Vici Syndrome	Hypopigmentation of hair, Cataract, Macular atrophy, Albinism, Sensorineural hearing impairment, ...	OMIM:242840
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi...	ORPHA:740
Iatrogenic Botulism	Mydriasis	ORPHA:254509
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Wide anterior fontanel, Upper ey...	OMIM:619736
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of...	OMIM:113000
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,...	ORPHA:181
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Hypoplasia of the iris, Microcornea, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Joubert Syndrome 14	Epicanthus, Tented upper lip vermilion, Posteriorly rotated ears, Morning glory anomaly, Highly a...	OMIM:614424
Intellectual Developmental Disorder, Autosomal Recessive 38	Blue irides	OMIM:615516
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Hypopigmented skin patches	ORPHA:330064
Nabais Sa-De Vries Syndrome, Type 1	Epicanthus, Telecanthus, Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Low anterior h...	OMIM:618828
Retinitis Pigmentosa 74	Posterior polar cataract, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor	OMIM:616562
Stickler Syndrome Type 1	Retinal detachment, Abnormal vitreous humor morphology	ORPHA:90653
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, High ...	OMIM:268400
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Mydriasis	ORPHA:247815
Achondrogenesis Type 2	Retinal detachment, Short stature, Abnormal vitreous humor morphology	ORPHA:93296
Developmental Delay With Variable Neurologic And Brain Abnormalities	Down-sloping shoulders, Micrognathia, Microdontia, Knee flexion contracture, Upslanted palpebral ...	OMIM:619694
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Pancre...	ORPHA:564
Maternal Uniparental Disomy Of Chromosome X	Hypopigmentation of the skin, Low posterior hairline	ORPHA:261519
Wound Botulism	Mydriasis	ORPHA:178475
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Hall-Riggs Syndrome	Delayed eruption of teeth, Epicanthus, Slow-growing hair, Abnormal dental enamel morphology, Thic...	ORPHA:2107
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Fanconi Anemia, Complementation Group S	Epicanthus, Macrodontia, Proximal placement of thumb, Dental malocclusion, Low anterior hairline,...	OMIM:617883
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ...	OMIM:612310
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Oligodontia, High palat...	OMIM:224300
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Microdontia, Sparse h...	ORPHA:221016
Localized Epidermolysis Bullosa Simplex	Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin	ORPHA:79400
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Hypoplastic toenails, Freckling	ORPHA:1547
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Micrognathia, Optic atrophy, Microcornea, Microphth...	OMIM:616171
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, S...	OMIM:266920
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Acrocraniofacial Dysostosis	Micrognathia, Short philtrum, Triphalangeal thumb, Advanced eruption of teeth, Abnormal toenail m...	ORPHA:949
Lowry-Maclean Syndrome	Delayed eruption of teeth, Craniosynostosis, Cleft palate	OMIM:600252
Acrofacial Dysostosis, Weyers Type	Abnormal fingernail morphology, Conical tooth, Abnormality of the dentition, Hypoplastic toenails...	ORPHA:952
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal limb bone morphology, Abnormal cortical bo...	ORPHA:2204
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Inhalational Botulism	Mydriasis	ORPHA:254504
Phakomatosis Pigmentovascularis	Generalized hyperpigmentation, Hypopigmented skin patches	ORPHA:2875
Fanconi Anemia, Complementation Group P	Growth delay, Cafe-au-lait spot, Short stature, Vitiligo	OMIM:613951
Vici Syndrome	Abnormality of retinal pigmentation, Short stature, Decreased circulating IgG2 level, Optic atrop...	ORPHA:1493
Diastrophic Dysplasia	Bowing of the long bones, Increased bone mineral density, Camptodactyly of finger, Proximal place...	ORPHA:628
Odontomicronychial Dysplasia	Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Thin na...	ORPHA:1811
Isolated Split Hand-Split Foot Malformation	Aniridia	ORPHA:2440
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Polycystic kidney dysplasia	OMIM:263210
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Chondrodysplasia-Difference Of Sex Development Syndrome	Hypoplasia of the iris, Chorioretinal coloboma	ORPHA:1422
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Parath...	ORPHA:805
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Micrognathia, Osteoporosis, Low anterior hairline, Low posterior hairl...	ORPHA:73272
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Sensorineural hearing impairment, Iris cyst	OMIM:620086
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Aarskog-Scott Syndrome	Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly of the 5th finger, Abnormal ...	ORPHA:915
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Hepat...	OMIM:311200
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:602271
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Sensorineural hearing impairment, Flexion contracture, Coloboma...	OMIM:615249
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Exp...	OMIM:182250
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98798
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, Adducted thumb, Hydrocele testis, Notched primary central incisor, High anteri...	OMIM:620062
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera...	ORPHA:69087
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Arthritis	ORPHA:324964
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Microphthalmia, Screwdri...	OMIM:302350
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Vertebral fusion, Bowed humerus, Tarsa...	OMIM:272460
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Wid...	OMIM:620099
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy, Corneal crystals	OMIM:219900
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly, Retrognathia, Down...	OMIM:619981
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy	OMIM:602093
Lowry-Maclean Syndrome	Osteopenia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, nar...	ORPHA:2409
Acromicric Dysplasia	Short metacarpal, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Cone-shaped epiphysis, ...	OMIM:102370
Anophthalmia Plus Syndrome	Anophthalmia, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Deviation of f...	ORPHA:1104
Joubert Syndrome 20	Renal cyst	OMIM:614970
Chromosome Xq21 Deletion Syndrome	Chorioretinal degeneration, Choroideremia, Chorioretinal atrophy, Conductive hearing impairment, ...	OMIM:303110
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Abnormality of retinal pigmentation, Cataract, Malar prominence, Abnormal ...	ORPHA:2715
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Insulin-Like Growth Factor I, Resistance To	Sparse scalp hair, Rieger anomaly, Highly arched eyebrow, Synophrys, Thick eyebrow	OMIM:270450
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Epicanthus, Highly arched eyebrow, Cleft upper lip, Sensorineural heari...	OMIM:243310
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Adams-Oliver Syndrome 4	Hypoplastic toenails, Microphthalmia, Toenail dysplasia	OMIM:615297
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Hypopigmented skin patches	ORPHA:220402
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ...	OMIM:618729
Smith-Magenis Syndrome	Retinal detachment, Synophrys, Short stature	OMIM:182290
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Melas	Short stature, Optic atrophy, Pigmentary retinopathy, Brain atrophy, Vitiligo, Cerebral cortical ...	ORPHA:550
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse eyelashes, Palpebral edema, Dy...	ORPHA:2067
Anencephaly 2	Anophthalmia, Median cleft lip, Cleft maxillary alveolar ridge, Median cleft palate, Short palpeb...	OMIM:619452
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Retinal detachment, Short stature, Optic atrophy, Long eyelashes, ...	OMIM:619833
White-Sutton Syndrome	Cerebellar atrophy, Short stature, Optic atrophy, Subcortical cerebral atrophy, Rod-cone dystroph...	ORPHA:468678
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Epicanthus, Dental crowding, Splenomegaly, Hypertrichosis, Broad philt...	OMIM:616354
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Atrichia, Nail dystrophy, Hy...	ORPHA:1867
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Sensorineural hearing impairment, Hypopigmented skin patches	ORPHA:1825
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia	OMIM:615181
Congenital Ptosis	Cafe-au-lait spot, Long eyelashes, Piebaldism, Astigmatism	ORPHA:91411
Clouston Syndrome	Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e...	OMIM:129500
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, Sparse hair	ORPHA:2266
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Tonne-Kalscheuer Syndrome	Concave nail, Tremor, Blue irides, Fine hair, Small nail	OMIM:300978
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Failure of eruption of permanent teeth, Cryptorchidism, Submucous cleft hard palate...	ORPHA:2250
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Oculoauricular Syndrome	Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Iris coloboma, Chorioretinal atroph...	OMIM:612109
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Epicanthus, Exaggerated cupid's bow, Joint hypermobility, Hearing impairment, Micrognathia, Promi...	OMIM:618659
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Epicanthus, Dental crowding, Highly arched eyebrow, Micrognathia, Persistence of primary teeth, T...	OMIM:618342
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki...	ORPHA:26791
Pitt-Hopkins Syndrome	Supernumerary nipple, Tapered finger, Cryptorchidism, Broad fingertip, Small hand, Short metatars...	ORPHA:2896
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, C...	OMIM:619797
Microcephalic Primordial Dwarfism, Montreal Type	Abnormally large globe, Cryptorchidism, Premature graying of hair, Alopecia of scalp, Retrognathi...	OMIM:210700
Cerebrooculonasal Syndrome	Epicanthus, Anophthalmia, Sparse eyelashes, Optic nerve hypoplasia, Postaxial polydactyly, Cranio...	OMIM:605627
Momo Syndrome	Delayed eruption of teeth, Epicanthus, Underfolded helix, Hyperconvex nail, Thick lower lip vermi...	OMIM:157980
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Intellectual Developmental Disorder, Autosomal Dominant 21	Epicanthus, Cryptorchidism, Cleft palate, Thin vermilion border, Long eyelashes, Narrow mouth, In...	OMIM:615502
Steatocystoma Multiplex With Natal Teeth	Natal tooth, Abnormality of the nail	OMIM:184510
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp	OMIM:618373
Rodrigues Blindness	Sclerocornea, Fine hair, Microcornea, Sparse hair, Microphthalmia	OMIM:268320
Microphthalmia, Lenz Type	Low-set, posteriorly rotated ears, Delayed eruption of teeth, Cataract, Abnormal dental morpholog...	ORPHA:568
Thyrocerebroretinal Syndrome	Nephritis, Goiter	OMIM:274240
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pa...	ORPHA:2750
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Short stature	ORPHA:3085
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Short stature, Brain atrophy	OMIM:619059
Microphthalmia, Syndromic 5	Joint laxity, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Cleft palate, Mi...	OMIM:610125
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,...	ORPHA:370959
Coffin-Siris Syndrome 3	Joint laxity, Sparse scalp hair, Hirsutism, Short distal phalanx of the 5th finger, Cleft palate,...	OMIM:614608
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Epicanthus, Polydactyly, Microphthalmia, Leukemia, Downslanted palpebra...	OMIM:602501
Anti-Glomerular Basement Membrane Disease	Retinal detachment	ORPHA:375
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Short tibia, Short...	OMIM:118651
Botulism	Mydriasis	ORPHA:1267
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Polycystic ovaries, N...	ORPHA:79259
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Coxa valga, Cone-shaped epiphysis, Joint hyp...	ORPHA:166272
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Pigmentary retinopathy, Rod-con...	OMIM:609033
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Stevenson-Carey Syndrome	Posteriorly rotated ears, Pierre-Robin sequence, Downturned corners of mouth, Coloboma, Low-set e...	OMIM:611961
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Rod-cone dystrophy, Cataract	OMIM:619082
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de...	ORPHA:1782
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,...	OMIM:137920
Chondrodysplasia, Blomstrand Type	Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Advanced ossifi...	OMIM:215045
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Uveitis, Microcor...	OMIM:221900
Juvenile Xanthogranuloma	Multiple cafe-au-lait spots, Iritis, Uveitis, Asymmetry of iris pigmentation	ORPHA:158000
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Neurooculocardiogenitourinary Syndrome	Epicanthus, Sensorineural hearing impairment, Downturned corners of mouth, Coloboma, Low-set ears...	OMIM:618652
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Moebius Syndrome	Micrognathia, Congenital fibrosis of extraocular muscles, High palate, Lower limb undergrowth, Sh...	OMIM:157900
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Incontinentia Pigmenti	Retinal detachment, Alopecia, Hypoplastic fingernail, Short stature, Abnormal chorioretinal morph...	ORPHA:464
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp...	ORPHA:79233
Cone-Rod Dystrophy 15	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:613660
Axenfeld-Rieger Syndrome	Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Abnormal anterior chamber morphology	ORPHA:782
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dysplasia	OMIM:614091
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Trichothiodystrophy 3, Photosensitive	Natal tooth, Cataract, Brittle hair, Hearing impairment, Carious teeth, Developmental cataract, L...	OMIM:616395
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Retinal detachment, Disproportionate short stature	ORPHA:1856
Jeune Syndrome	Abnormality of retinal pigmentation, Short stature	ORPHA:474
Usher Syndrome Type 2	Cataract, Sensorineural hearing impairment, Abnormality of the inner ear, Iris hypopigmentation	ORPHA:231178
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Mucolipidosis Iv	Opacification of the corneal stroma, Optic atrophy, Retinal degeneration, Corneal opacity	OMIM:252650
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne...	OMIM:113650
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Thick eyebrow, Cataract, Corneal opacity, Joint stiffness, S...	ORPHA:585
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Focal Dermal Hypoplasia	Alopecia, Corneal opacity, Ectopia lentis, Abnormality of skin pigmentation, Hypoplasia of the ir...	ORPHA:2092
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia	OMIM:619949
Cardiofaciocutaneous Syndrome 4	Joint laxity, Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Optic nerve hypoplasia, ...	OMIM:615280
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Nephritis, Renal dysplasia	OMIM:314300
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Foodborne Botulism	Mydriasis	ORPHA:228371
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Flattened epiphysis, Genu valgum, Ulnar deviatio...	OMIM:222600
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Wide anterior fontanel, S...	OMIM:619339
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgA level, Growth delay, Decreased circulating total IgM, Decreased specifi...	OMIM:614700
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Hepatomegaly, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Prolidase Deficiency	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Micrognathia, Carious teeth,...	ORPHA:742
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Nijmegen Breakage Syndrome	Short stature, Dysgammaglobulinemia, Retinal pigment epithelial mottling, Progressive vitiligo, N...	OMIM:251260
Hydrolethalus	Anophthalmia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cleft hard pala...	ORPHA:2189
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia	ORPHA:3240
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn...	OMIM:270200
Pycnodysostosis	Ridged nail, Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteo...	ORPHA:763
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Nephronophthisis 15	Retinal degeneration	OMIM:614845
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micro...	ORPHA:2484
Ataxia With Vitamin E Deficiency	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation	ORPHA:96
Nathalie Syndrome	Cataract, Hearing impairment	OMIM:255990
Stiff-Person Syndrome	Vitiligo	OMIM:184850
Acrofrontofacionasal Dysostosis	Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow	ORPHA:1784
Familial Melanoma	Abnormal hair morphology, Freckling	ORPHA:618
48,Xxxy Syndrome	Mandibular prognathia, Clinodactyly of the 5th finger, Abnormal dental enamel morphology, Open bi...	ORPHA:96263
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:264700
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Aminoaciduria, Hypoplasi...	OMIM:214110
Donnai-Barrow Syndrome	Hypoplasia of the iris, Cataract, Iris coloboma	OMIM:222448
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Eosinophilia, Craniosynostosis, Persistence of primary teeth, Recurrent fractures, In...	OMIM:147060
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu...	OMIM:617406
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Protruding ear, Hyperconvex fingernails, High palate, Widely spaced te...	ORPHA:192
Microphthalmia With Brain And Digit Anomalies	Cataract, Anophthalmia, Sclerocornea, Cryptorchidism, Sensorineural hearing impairment, Microcorn...	ORPHA:139471
Localized Scleroderma	Abnormal skin adnexa morphology, Hypopigmented skin patches, Patchy alopecia, Hyperpigmentation o...	ORPHA:90289
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy	ORPHA:370968
Oculopharyngodistal Myopathy 3	Conductive hearing impairment, Pigmentary retinopathy, Sensorineural hearing impairment, Ptosis	OMIM:619473
Glucocorticoid Deficiency 2	Hyperpigmentation of the skin	OMIM:607398
Stiff Skin Syndrome	Retinal detachment, Short stature	ORPHA:2833
Cranioectodermal Dysplasia 1	Hepatomegaly, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chronic kidney d...	OMIM:218330
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Alopecia	OMIM:300337
Idiopathic Uveal Effusion Syndrome	Exudative retinal detachment, Retinal fold, Subretinal fluid	ORPHA:209956
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Biemond Syndrome Type 2	Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism, Coloboma	ORPHA:141333
2Q31.1 Microdeletion Syndrome	Micrognathia, Hypoplastic toenails, Synophrys, Deep philtrum, Low anterior hairline, Downturned c...	ORPHA:251014
Cln3 Disease	Cerebellar atrophy, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Generalized ce...	ORPHA:228346
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Micrognathia, Conical tooth, Ankyloblepharon, Hyperconvex fingernails, Coarse hair, Widely spaced...	ORPHA:1071
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal metatarsal morphology, Thick upper lip vermilion, Limited pronation/supination of forear...	ORPHA:163654
Infant Botulism	Keratoconjunctivitis sicca, Mydriasis	ORPHA:178478
Peroxisome Biogenesis Disorder 11A (Zellweger)	Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst	OMIM:614883
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris	ORPHA:169090
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy, Short stature	OMIM:252011
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per...	ORPHA:46627
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Epicanthus, Cataract, Cleft lip, Deep philtrum, Cleft palate, Protruding ear, ...	OMIM:618571
Alg9-Cdg	Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Hepatic cysts, Periportal fibrosis,...	ORPHA:79328
Autoimmune Hepatitis	Increased circulating IgG level, Increased circulating antibody level, Vitiligo	ORPHA:2137
Galloway-Mowat Syndrome 1	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Small nail, Microphthalmia...	OMIM:251300
Craniolenticulosutural Dysplasia	Osteopenia, Brittle hair, Coarse hair, High palate, Sparse hair, Bifid uvula, Joint laxity, Wide ...	OMIM:607812
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Cataract, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Sensorineural hearing ...	OMIM:614230
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Joint laxity, Thin upper lip vermilion, Epicanthus, Optic nerve hypoplasia, Hyperopic astigmatism...	ORPHA:363686
Rabin-Pappas Syndrome	Mandibular prognathia, Retinal detachment, Cataract, Optic nerve hypoplasia, Highly arched eyebro...	OMIM:620155
Trisomy 1Q	Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Anophthalmia, Hypopla...	ORPHA:261344
Squalene Synthase Deficiency	Epicanthus, Posteriorly rotated ears, Optic nerve hypoplasia, Micrognathia, Elbow flexion contrac...	OMIM:618156
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Epicanthus, Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of permanen...	OMIM:618506
Rere-Related Neurodevelopmental Syndrome	Low-set, posteriorly rotated ears, Ptosis, Epicanthus, Micrognathia, Optic atrophy, Astigmatism, ...	ORPHA:494344
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Highly arched eyebrow, Diastema, Bilateral ptosis, Synophrys, Low anter...	ORPHA:329224
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis	ORPHA:261290
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo...	ORPHA:93346
Proboscis Lateralis	Anophthalmia, Abnormal morphology of bony orbit of skull, Orofacial cleft, Abnormality of the max...	ORPHA:141099
Oculotrichoanal Syndrome	Anophthalmia, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalmia, Cryptophthalmos	ORPHA:2717
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Para...	ORPHA:2237
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Telecanthus, Alopecia, Conical tooth, Abnormality of the dentition, Cryptorchidism, Fine hair, Up...	ORPHA:228390
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy, High palate, Bilateral ptosis, Hearing impairment	ORPHA:329336
Marcus-Gunn Syndrome	Unilateral ptosis, Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Morning glor...	ORPHA:91412
Myh9-Related Disease	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Nephropathy, Nephritis	ORPHA:182050
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Distal Triplication 15Q	Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Hydrocele testis, Po...	ORPHA:314588
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Epicanthus, Micrognathia, Abnormality of hair texture, Synophrys, Abnor...	ORPHA:73223
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Septo-optic dysplasia, Craniosynostosis, Optic atrophy, Microp...	ORPHA:1528
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Abno...	ORPHA:1798
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation, Corneal opacity	ORPHA:578
Codas Syndrome	Delayed eruption of teeth, Ptosis, Short metacarpal, Congenital hip dislocation, Epicanthus, Abno...	ORPHA:1458
Cockayne Syndrome Type 1	Mandibular prognathia, Anophthalmia, Foot joint contracture, Hypermelanotic macule, Delayed erupt...	ORPHA:90321
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy...	OMIM:231095
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy, Hypertrichosis	OMIM:256000
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Cleft palate, Wid...	OMIM:243605
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Epicanthus, Sandal gap, Abnormal finger flexion crea...	ORPHA:2980
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hypoplastic iliac wing, Short palm, Sp...	OMIM:235510
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci...	OMIM:602400
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Optic nerve hypoplasia, Thick lower lip vermilion, Long philtrum, Aplas...	ORPHA:137634
49,Xxxxy Syndrome	Mandibular prognathia, Clinodactyly of the 5th finger, Abnormal dental enamel morphology, Open bi...	ORPHA:96264
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Mi...	ORPHA:313855
15Q24 Microdeletion Syndrome	Smooth philtrum, Joint laxity, Epicanthus, Abnormality of the dentition, Thick lower lip vermilio...	ORPHA:94065
Proteus-Like Syndrome	Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Irregular hyperpigmentat...	ORPHA:2969
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume...	ORPHA:3353
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Abnormality...	ORPHA:1806
Miller Fisher Syndrome	Anisocoria, Mydriasis	ORPHA:98919
Trichothiodystrophy	Osteopenia, Ridged nail, Multiple joint contractures, Brittle hair, High, narrow palate, Protrudi...	ORPHA:33364
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p...	OMIM:607361
Refsum Disease	Abnormality of retinal pigmentation, Cataract, Splenomegaly, Sensorineural hearing impairment, Na...	ORPHA:773
Dubowitz Syndrome	Aplastic anemia, Micrognathia, Protruding ear, Hypoplasia of the iris, High palate, Otitis media,...	OMIM:223370
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract, Premature ovarian insufficiency	ORPHA:2278
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Frontal balding, Early balding, Blue irides, Hand tremor, Cafe-au-lait spot	ORPHA:3041
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Reduced bone mineral density, Glossoptosis, Sparse hair, Clino...	ORPHA:2108
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Chorioretinal coloboma,...	OMIM:234100
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Epidermodysplasia Verruciformis	Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:302
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Hepatic cysts, Erythroderma	OMIM:617425
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Carious teeth, Yellow nails, Conical incisor, Onycholysis, Nail dystrophy,...	OMIM:614564
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo...	ORPHA:573
Frontonasal Dysplasia 3	Microphthalmia, Absent eyebrow, Sparse eyelashes, Upper eyelid coloboma	OMIM:613456
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia	OMIM:301060
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthri...	ORPHA:37748
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Scarring al...	OMIM:618727
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Short stature, Remnants of the hyaloid vascular system, Intrauterine growth r...	ORPHA:2714
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Abnormality of nail color, Short stature	ORPHA:1824
Bardet-Biedl Syndrome 2	Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Epicanthus, Tented upper lip vermilion, Cataract, Retinal pigment epithelial mottling, High palat...	OMIM:614105
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring ...	ORPHA:35173
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Downturned corners of mouth, Short philtrum, High palate, Sp...	OMIM:616364
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Seborrheic dermatitis, Pancreatic cysts, Dilatation of t...	OMIM:274000
Oculodentodigital Dysplasia	Dry hair, Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia...	OMIM:164200
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Chorioretinal dysplasia, Abnormal eyelid morphology, Protruding ear, Abnormal optic...	ORPHA:2526
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Cutaneous mastocytosis	OMIM:248910
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
Short Syndrome	Cataract, Rieger anomaly, Astigmatism, Megalocornea	OMIM:269880
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph...	OMIM:616629
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Hypoplastic toenails, Conical incisor, Microdontia, Abnormality ...	ORPHA:289
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Retinal detachment, Disproportionate short stature	OMIM:609616
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand ...	ORPHA:1553
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short toe, Short metatarsal, Osteoporosis, Subcutane...	OMIM:103580
Marshall Syndrome	Retinal detachment, Short stature, Sparse eyelashes, Sparse eyebrow, Abnormal vitreous humor morp...	ORPHA:560
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Nance-Horan Syndrome	Mandibular prognathia, Retinal detachment, Cataract, Abnormality of the dentition, Supernumerary ...	ORPHA:627
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Heme Oxygenase 1 Deficiency	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Aspleni...	OMIM:614034
Fanconi Anemia, Complementation Group O	Hydronephrosis, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst	OMIM:613390
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Walker-Warburg Syndrome	Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Posteriorly rotated...	ORPHA:899
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Telecanthus, Posteriorly rotated ears, Optic nerve hypoplasia, Corneal opacity, Craniosynostosis,...	OMIM:301056
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly	OMIM:613382
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Micrognat...	OMIM:236670
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Highly arched eyebrow, Micrognathia, Sagi...	OMIM:145420
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatin...	OMIM:614376
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Hypoplastic fingernail, Hypoplastic thumbnail, Micrognathia, Hypoplastic toenails, Narrow mouth, ...	OMIM:619356
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia, Craniosynostosis	OMIM:218670
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Reti...	ORPHA:50815
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft pal...	OMIM:620269
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Joint laxity, Vertebral fusion, Optic nerve hypoplasia,...	OMIM:615583
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Retinal detachment, Short stature	ORPHA:3218
Angelman Syndrome	Fair hair, Hypopigmentation of the skin, Blue irides	OMIM:105830
Multisystemic Smooth Muscle Dysfunction Syndrome	Retinal infarction, Mydriasis	OMIM:613834
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Epicanthus, Optic nerve hypoplasia, Micrognathia, Abnormally large globe, Sens...	OMIM:300749
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Highly arched eyebrow, Sparse eyebrow, Flexion contr...	ORPHA:263463
Trichothiodystrophy 5, Nonphotosensitive	Mandibular prognathia, Brittle hair, Retinal dystrophy, Optic nerve hypoplasia, Slow-growing hair...	OMIM:300953
Hypogonadism-Cataract Syndrome	Male hypogonadism, Cataract, Hypogonadism, Infertility	OMIM:240950
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Epicanthus, Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy, Protruding...	ORPHA:401777
Nephroblastoma	Aniridia	ORPHA:654
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis, Eyelid coloboma, Hi...	ORPHA:861
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Epicanthus, Sparse scalp hair, Sparse eyelashes, Sagittal craniosynostosis, Microgna...	OMIM:616901
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Synophrys, Deep philtrum, Short philtrum, Joint contracture of the 5th finger, Prominent fingerti...	OMIM:620098
Chromosome 2P16.1-P15 Deletion Syndrome	Ptosis, Epicanthus, Telecanthus, Posteriorly rotated ears, Optic nerve hypoplasia, Thin upper lip...	OMIM:612513
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Epicanthus, Telecanthus, Posteriorly rotated ears, Tented upper lip vermilion, Dent...	OMIM:612582
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Congenital hip dislocation, Anophthalmia, Brittle hair, Os...	OMIM:305600
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr...	ORPHA:235
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Macroorchidism, Abnormal hair morphology, Oligozoospermia	ORPHA:3000
Joubert Syndrome 3	Epicanthus, Retinal dystrophy, Highly arched eyebrow, Pigmentary retinopathy, Low-set ears, Open ...	OMIM:608629
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Cleft...	OMIM:614078
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98794
Cerebellofaciodental Syndrome	Tapered finger, Sparse eyebrow, Cryptorchidism, Dental malocclusion, Shortening of all distal pha...	OMIM:616202
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Hyperpigmentation ...	OMIM:301845
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hearing impairment, Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Pigmentary...	OMIM:560000
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Alopecia totalis, Decreased circulating antibody level, Nail dystrophy, Abnormality of ...	ORPHA:293978
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Acro-Renal-Ocular Syndrome	Vertebral fusion, Epicanthus, Cataract, Optic disc hypoplasia, Aganglionic megacolon, Radial club...	ORPHA:959
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, Abnormal hair pattern, Thrombocytope...	ORPHA:261250
Noonan Syndrome 13	Highly arched eyebrow, Blue irides, Low posterior hairline, Multiple lentigines, Cafe-au-lait spo...	OMIM:619087
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots	ORPHA:100
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Synophrys, Aplasia of the distal phalanx of the 5th finger, Oligodont...	ORPHA:364577
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality	OMIM:617519
Joubert Syndrome 15	Retinopathy, Coloboma, Retinal dystrophy	OMIM:614464
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Tapered finger, Wide mouth, Hi...	OMIM:618825
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Short philtrum, Premature ovarian insufficiency, Streak ovary, Duplicated lacrimal punctum, Highl...	ORPHA:572333
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Abnormally ossified vertebrae, Micrognathia, Optic atrophy, Orof...	ORPHA:3301
Acute Adrenal Insufficiency	Orthostatic hypotension, Sparse axillary hair, Delayed puberty, Hyperpigmentation of the skin, Vi...	ORPHA:95409
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Coloboma, High palate, Short...	ORPHA:251028
Wyburn-Mason Syndrome	Retinal vascular malformation, Iris hypopigmentation	ORPHA:53719
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn...	OMIM:616300
Monosomy 18P	Epicanthus, Brachydactyly, Alopecia, Micrognathia, Carious teeth, Cleft palate, Low posterior hai...	ORPHA:1598
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Micrognathia, Deep philtrum, Low anterior hairline, Downturned corners of mouth, Bifid uvula, Hig...	ORPHA:404440
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation	ORPHA:745
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Thick eyebrow, Congenital hip dislocation, Roc...	ORPHA:2616
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr...	OMIM:615994
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Papilledema, Abnormality of retinal pigmentation, Hearing impairment, ...	OMIM:309900
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Brachydactyly, Recurrent fractures, Micrognathia, Hypoplasia of the ma...	OMIM:601812
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Ceroid Lipofuscinosis, Neuronal, 5	Retinal degeneration	OMIM:256731
8Q21.11 Microdeletion Syndrome	Cataract, Iris hypopigmentation, Corneal opacity, Sclerocornea, Cryptorchidism, Low-set ears, Mic...	ORPHA:284160
Cockayne Syndrome B	Dry hair, Abnormal hair morphology, Developmental cataract, Abnormality of skin pigmentation, Pig...	OMIM:133540
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Hypoplasia of the ...	OMIM:300863
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, Pan...	ORPHA:167
Tatton-Brown-Rahman Syndrome	Epicanthus, Everted upper lip vermilion, Exaggerated cupid's bow, Optic nerve hypoplasia, Sagitta...	OMIM:615879
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Trisomy 18	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Epicanthus, Microretrogna...	ORPHA:3380
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Mandibulofacial Dysostosis With Alopecia	Alopecia, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hyp...	OMIM:616367
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Upslanted palpebral fissure, Coloboma, Macroglossia, Wide mouth, Everted lower lip vermilion, Low...	OMIM:616789
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Fetal Alcohol Syndrome	Thin upper lip vermilion, Epicanthus, Telecanthus, Micrognathia, Joint stiffness, Non-midline cle...	ORPHA:1915
Adams-Oliver Syndrome 2	Alopecia, Micrognathia, Optic atrophy, Low anterior hairline, Protruding ear, Developmental catar...	OMIM:614219
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d...	OMIM:616733
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Geographic atrophy, Synophrys, Re...	OMIM:619260
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Low anterior hairline, Lambdoidal craniosynostosis, Downslanted palpebral...	OMIM:618736
Brittle Cornea Syndrome	Retinal detachment, Abnormality of hair pigmentation	ORPHA:90354
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti...	OMIM:605808
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Camptodactyly of fin...	ORPHA:2710
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T...	OMIM:301050
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair, Hea...	OMIM:229200
Wolfram Syndrome 1	Sideroblastic anemia, Cataract, Megaloblastic anemia, Sensorineural hearing impairment, Optic atr...	OMIM:222300
Retinitis Pigmentosa 23	Retinal pigment epithelial atrophy, Posterior subcapsular cataract, Absent foveal reflex, Rod-con...	OMIM:300424
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperostosis, Subperiosteal bone formation	OMIM:211900
Spondyloenchondrodysplasia With Immune Dysregulation	Hypopigmented skin patches on arms, Short stature, Hypermelanotic macule, Vitiligo	OMIM:607944
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Deep philtrum, Coarse hair, High palate, Widely spaced teeth, Thickened helices, Sparse hair, Bif...	OMIM:617506
Spondyloenchondrodysplasia	Disproportionate short-trunk short stature, Short stature, Vitiligo	ORPHA:1855
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Abnormality of the dentition, Craniosynostosis, Deep philtrum, Camptodact...	ORPHA:251038
Serotonin Syndrome	Mydriasis	ORPHA:43116
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ...	ORPHA:289157
Martsolf Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Low anterior hairline, High palate,...	OMIM:212720
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:3453
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
5Q14.3 Microdeletion Syndrome	Optic nerve hypoplasia, Upslanted palpebral fissure, Short philtrum, Open mouth, Thick eyebrow	ORPHA:228384
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Dowling-Degos Disease	Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin...	ORPHA:79145
Cerebrooculofacioskeletal Syndrome 2	Sparse hair, Microphthalmia, Cataract, Developmental cataract	OMIM:610756
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Telecanthus, Carious teeth, Retinal pigment epithelial mottling, Widely spaced teeth, Thick vermi...	OMIM:617102
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy	OMIM:613156
Smith-Magenis Syndrome	Retinal detachment, Synophrys, Short stature, Delayed puberty	ORPHA:819
Scheie Syndrome	Corneal opacity, Retinal degeneration	OMIM:607016
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Short stature, Melanocytic nevus, Multiple cafe-au-lait spot...	ORPHA:1969
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Buphthalmos, Rieger anomaly, Primary congenital glaucoma	ORPHA:521445
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Prominence of the premaxilla, Block vert...	ORPHA:50
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Alopecia, Corneal opacity, Recurrent fractures, Coloboma...	OMIM:163200
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Zellweger Syndrome	Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Optic atrophy, Po...	ORPHA:912
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Pigmentary retinopathy, Short stature, Generalized hirsutism	ORPHA:110
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Martsolf Syndrome 2	Cataract, Macrotia, Hypogonadotropic hypogonadism, Developmental cataract	OMIM:619420
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia	ORPHA:1166
Joubert Syndrome 18	Intrahepatic biliary atresia, Renal cyst, Horseshoe kidney	OMIM:614815
Revesz Syndrome	Leukocoria, Fine, reticulate skin pigmentation, Nail pits, Fine hair, Exudative retinopathy, Nail...	OMIM:268130
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Posteriorly rotated ears, Highly arched eyebrow, Nail dystrophy, Long philtrum...	OMIM:300887
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Pigmentary retinopathy, Retinal degenera...	ORPHA:79264
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Astigmatism, Macular atrophy	OMIM:610356
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypop...	ORPHA:496790
Xeroderma Pigmentosum, Complementation Group C	Freckling, Hypopigmentation of the skin	OMIM:278720
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Osteoporosis, Hypogonadism, Enamel...	OMIM:612462
Atkin-Flaitz Syndrome	Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macroorchidism...	ORPHA:1193
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Cataract, Truncal titubation, Pigmentary retinopathy, Ro...	ORPHA:88628
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Conjugated hyperbi...	ORPHA:79303
Xeroderma Pigmentosum, Complementation Group B	Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, P...	OMIM:610651
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab...	ORPHA:261529
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hyperostosis, Generalized bone demineralization, Abnormal bone ossification	ORPHA:73230
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Hypoplastic spleen, Dec...	OMIM:602361
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Fused cervical vertebrae, Astigmatism, Neutropenia, Conductive hearing im...	OMIM:609053
Aortic Aneurysm, Familial Thoracic 4	Abnormal iris pigmentation	OMIM:132900
2P15P16.1 Microdeletion Syndrome	Protruding ear, High palate, Facial palsy, Sparse eyebrow, Low-set ears, Narrow mouth, Retrognath...	ORPHA:261349
Kapur-Toriello Syndrome	Cataract, Camptodactyly of finger, Cleft upper lip, Cleft palate, Low posterior hairline, Retinal...	OMIM:244300
Dyskeratosis Congenita, Autosomal Recessive 6	Abnormality of skin pigmentation, Alopecia, Sparse hair, Nail dystrophy	OMIM:616353
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Persistence of primary teeth, Supernumerary tooth, Increased cir...	OMIM:619752
Schwartz-Jampel Syndrome	Micrognathia, Low anterior hairline, Coxa vara, High palate, Wrist flexion contracture, Generaliz...	ORPHA:800
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Micrognathia, High, narrow palate, Deep philt...	ORPHA:435638
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Aniridia	OMIM:194072
Familial Hyperprolactinemia	Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Ch...	OMIM:267750
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Blepharophimosis, Micrognathia, Adducted thumb, Flar...	OMIM:610758
Kapur-Toriello Syndrome	Posteriorly rotated ears, Orofacial cleft, Retinal coloboma, Atresia of the external auditory can...	ORPHA:2328
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Mi...	OMIM:614643
Erythrokeratodermia Variabilis	Cataract, Corneal opacity, Hypermelanotic macule, Protruding ear, Irregular hyperpigmentation, Ab...	ORPHA:317
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple...	OMIM:216360
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Severe short stature, Proportionate short stature, Intrauterine growth re...	ORPHA:3208
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hepatic failure	OMIM:602579
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Bilateral cryptorc...	OMIM:180849
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Anemia	OMIM:614450
Seckel Syndrome 2	Few cafe-au-lait spots, Microdontia, Micrognathia, Clinodactyly of the 5th finger, Microphthalmia...	OMIM:606744
Pseudoachondroplasia	Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra...	OMIM:177170
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Epicanthus, Optic nerve hypoplasia, Optic atrophy, Macroglossia, Cafe-a...	ORPHA:357001
Alg3-Cdg	Abnormal pinna morphology, Hypopigmentation of the skin, Hearing impairment	ORPHA:79321
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene...	ORPHA:3322
Pachyonychia Congenita 2	Natal tooth, Sparse scalp hair, Subungual hyperkeratosis, Dry hair, Angular cheilitis, Sparse eye...	OMIM:167210
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Premature graying of hair, Nail dystrophy, Reticular hyperpigmentation	OMIM:619767
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Dacryocystitis, Sensorineural hearing impairment, Gingival overgrowth, Coloboma, Thin vermilion b...	ORPHA:464288
Sandestig-Stefanova Syndrome	Laterally extended eyebrow, Epicanthus, Rocker bottom foot, Highly arched eyebrow, Retrognathia, ...	OMIM:618804
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Promin...	OMIM:200990
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Joint laxity, Cryptorchidism, Narrow palate, Short upper lip, Macrodontia ...	ORPHA:364028
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Anophthalmia, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long e...	OMIM:615877
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Osteomyelitis, Eosinophilia, Craniosynostosis, Abnormality...	ORPHA:2314
Familial Adenomatous Polyposis 1	Carious teeth, Supernumerary tooth, Eruption failure, Odontoma, Hyperpigmentation of the skin	OMIM:175100
Late-Onset Isolated Acth Deficiency	Orthostatic hypotension, Vitiligo	ORPHA:199299
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Flexion contracture, Hypoplastic iliac wing, Short palm, Thick u...	OMIM:611717
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevated circulating aspartate aminot...	OMIM:614866
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Osteolysis, Synovitis, Enthesiti...	ORPHA:793
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Epicanthus, Tented upper lip vermilion, Overlappi...	OMIM:619148
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury	ORPHA:54057
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef...	OMIM:617337
Ohdo Syndrome, X-Linked	Micrognathia, High palate, Widely spaced teeth, Microdontia, High anterior hairline, Sparse eyebr...	OMIM:300895
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Cleft palate, Tooth agenesis, High palate, Microphthalmia	ORPHA:1135
Knobloch Syndrome	Retinal detachment, Abnormal hair morphology, Abnormal vitreous humor morphology, Macular degener...	ORPHA:1571
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Micrognathia, Sparse eyebrow, Tapered finger, Cryptorchidism, Dental malo...	ORPHA:444072
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Latera...	OMIM:300166
Proteus Syndrome	Mandibular hyperostosis, Depigmentation/hyperpigmentation of skin, Calvarial hyperostosis, Facial...	OMIM:176920
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate...	OMIM:119600
Angelman Syndrome	Keratoconus, Optic disc pallor, Tremor, Optic atrophy, Astigmatism, Fair hair, Hypopigmentation o...	ORPHA:72
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio...	OMIM:613154
Hsd10 Mitochondrial Disease	Optic atrophy, Retinal degeneration	OMIM:300438
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Joint laxity, Micrognathia, Microcytic anemia, Pigment...	OMIM:600462
Jacobsen Syndrome	Epicanthus, Telecanthus, Micrognathia, Abnormal eyelash morphology, Flexion contracture, Optic at...	OMIM:147791
Ritscher-Schinzel Syndrome 1	Micrognathia, Cleft palate, Low posterior hairline, Coloboma, Low-set ears, Downslanted palpebral...	OMIM:220210
Werner Syndrome	Abnormality of retinal pigmentation, Increased bone mineral density, Sparse scalp hair, Rocker bo...	ORPHA:902
Lowry-Wood Syndrome	Pigmentary retinopathy, Short stature, Intrauterine growth retardation	OMIM:226960
Congenital Bile Acid Synthesis Defect Type 4	Tremor, Pigmentary retinopathy, Cataract	ORPHA:79095
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef...	OMIM:616788
Unilateral Ocular Duplication	Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Postnatal growth retardation, Optic atrophy, Cafe-au-lait spot, Fair hair, Hypopigmenta...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Postnatal growth retardation, Optic atrophy, Cafe-au-lait spot, Fair hair, Hypopigmenta...	ORPHA:363958
Holoprosencephaly	Anophthalmia, Abnormality of the spleen, Synophrys, Deep philtrum, Bilateral cleft lip, Highly ar...	ORPHA:2162
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Neurofibromatosis Type 1	Abnormal eyelid morphology, Pheochromocytoma, Chorioretinal coloboma, Heterochromia iridis, Spina...	ORPHA:636
Senior-Boichis Syndrome	Elevated hepatic transaminase, Thickening of the tubular basement membrane, Portal hypertension, ...	ORPHA:84081
Cronkhite-Canada Syndrome	Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Hypoplastic toenails, Ab...	ORPHA:2930
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor	ORPHA:216866
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma, Iris coloboma	OMIM:169550
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concentration, ...	OMIM:274150
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bo...	OMIM:112250
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos, Bilateral ...	OMIM:618874
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str...	ORPHA:93357
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, White eyelashes, White eyebrow, Aganglionic megacolon, Short...	OMIM:609136
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,...	ORPHA:93111
Neuroocular Syndrome	Hyperextensibility of the finger joints, Brittle hair, Synophrys, Lens coloboma, Downturned corne...	OMIM:619539
Trichothiodystrophy 1, Photosensitive	Cataract, Freckling, Brittle hair, Trichoschisis, Protruding ear, Microcornea, Fine hair, Keratoc...	OMIM:601675
Syndromic Diarrhea	Hepatomegaly, Gastritis, Splenomegaly, Renal hypoplasia, Abnormality of the liver, Colitis, Hypop...	ORPHA:84064
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Hypoplastic fifth toenail, Sparse scalp hair, Highly arched eyebrow, O...	OMIM:615866
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Usher Syndrome	Abnormality of retinal pigmentation, Abnormal vestibular function, Abnormality of dental color, C...	ORPHA:886
Laron Syndrome	Delayed eruption of teeth, Micrognathia, Short toe, Osteoarthritis, Tooth agenesis, Microdontia, ...	ORPHA:633
Atelis Syndrome 2	Epicanthus, Remnants of the hyaloid vascular system, Micrognathia, Diastema, Thrombocytopenia, Th...	OMIM:620185
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Abnormally large globe...	OMIM:200610
Fg Syndrome Type 1	Limited elbow extension and supination, Dental crowding, Optic nerve hypoplasia, Craniosynostosis...	ORPHA:93932
Warburg Micro Syndrome 3	Cataract, Micrognathia, Flexion contracture, Optic atrophy, Low anterior hairline, Narrow palate,...	OMIM:614222
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Disproportio...	ORPHA:485
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decrease...	OMIM:614922
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Optic nerv...	ORPHA:508498
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal atrophy, Retinal dystrophy	OMIM:615960
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, High, narrow palate, Protruding ear, Downturned corners of mouth, Coloboma, Abnormal ...	ORPHA:453504
Noonan Syndrome 4	Curly hair, Posteriorly rotated ears, Sparse eyebrow, Blue irides, Low-set ears, Thickened helice...	OMIM:610733
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, High, narrow palate, Protruding ear, Downturned corners of mouth, Coloboma, Abnormal ...	ORPHA:352665
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Micrognathia, Coloboma, High palate, Cleft lip, Low-set ears, Small nail, Smooth philtrum, Optic ...	OMIM:616975
Familial Tumoral Calcinosis	Hyperostosis, Hypopigmented skin patches	ORPHA:53715
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Arachnodactyly, Dental crowding, Proximal placement o...	OMIM:620370
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Rhizomelia, Decreased circulating total IgM, Decreased circulating IgG level,...	OMIM:607143
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation, Nail dystrophy	OMIM:613988
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Telecanthus, Increased bone mineral dens...	ORPHA:50945
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Raine Syndrome	Mandibular prognathia, Natal tooth, Bowing of the long bones, Increased bone mineral density, Hig...	OMIM:259775
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Iris atrophy, Mixed hearing impairment, Long eyebrows, Cleft upper lip, Wi...	OMIM:201180
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micrognathia, Metaphyseal widening, Limitation of joi...	OMIM:224400
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Cataract, Cryptorchidism, Sensori...	ORPHA:1606
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Osteolysis involving bones...	ORPHA:73
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Posteriorly rotated ears...	OMIM:617237
Bone Marrow Failure Syndrome 3	Aplastic anemia, Micrognathia, Oral ulcer, Reduced bone mineral density, Downturned corners of mo...	OMIM:617052
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Abnormality of p...	OMIM:257980
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair, Hypopigmentation of the skin	OMIM:236200
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Short stature, Pigmentary retinopathy, Delayed puberty, Rod-cone dystrophy, Breast hypoplasia	ORPHA:2235
Stickler Syndrome, Type I	Retinal detachment, Vitreoretinopathy, Membranous vitreous appearance, Retinal hole	OMIM:108300
Pontocerebellar Hypoplasia, Type 11	Coloboma, Macrotia	OMIM:617695
Frontorhiny	Low-set, posteriorly rotated ears, Epicanthus, Cataract, Camptodactyly of finger, Hypoplasia of t...	ORPHA:391474
Joubert Syndrome 23	Coloboma, Sensorineural hearing impairment	OMIM:616490
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614862
Meckel Syndrome, Type 5	Bile duct proliferation, Renal cyst	OMIM:611561
Desbuquois Dysplasia 2	Dental crowding, Metaphyseal widening, Synophrys, Short phalanx of finger, Bifid uvula, Genu varu...	OMIM:615777
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta...	ORPHA:97362
Cataract 16, Multiple Types	Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract	OMIM:613763
Autoimmune Polyendocrinopathy Type 4	Decreased circulating antibody level, Alopecia, Vitiligo	ORPHA:227990
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Hyperconvex fingernails, Advanced eruption of teeth, Prominence of t...	ORPHA:2215
Pituitary Apoplexy	Mydriasis	ORPHA:95613
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Posterior embryotoxon, Supernumerary nipple, Hypoplasia of the iris, High anterior hairline, Ante...	OMIM:619194
Mckusick-Kaufman Syndrome	Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis	OMIM:236700
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Recurrent pneumonia, Nephrotic syndrome, Focal segmental...	OMIM:617303
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Optic atrophy, Sparse scalp hair	ORPHA:394
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Intermediate Uveitis	Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate...	ORPHA:279914
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract, Hypergonadotropic hypogonadism, Decreased fertility, Primary amenorrhea	ORPHA:2410
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Low posterior hairline, Nail dystrophy, ...	OMIM:300860
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Abnormal pinna morphology, Cataract, Absent tragus, Cleft lip, Synoph...	OMIM:603457
Multiple Benign Circumferential Skin Creases On Limbs	Low-set, posteriorly rotated ears, Epicanthus, Micrognathia, External ear malformation, Cleft pal...	ORPHA:2505
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Sensorineural hearing impairment, Irregular menstr...	OMIM:617565
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Addison Disease	Orthostatic hypotension, Sparse axillary hair, Delayed puberty, Hyperpigmentation of the skin, Vi...	ORPHA:85138
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Epicanthus, Cryptorchidism, Bilateral microphthalmos, Low ante...	ORPHA:369891
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Chorioretinal coloboma, Iris colo...	OMIM:602499
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Anophthalmia, Abnormal size of the palpebral fissures, Camptodactyly of fi...	ORPHA:1101
Spastic Paraplegia 11, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:604360
Otospondylomegaepiphyseal Dysplasia	Retinal detachment, Disproportionate short stature, Degenerative vitreoretinopathy	ORPHA:1427
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Odontomicronychial Dysplasia	Premature eruption of permanent teeth, Short nail, Slow-growing nails, Thin nail	OMIM:601319
Alternating Hemiplegia Of Childhood	Thin eyebrow, Mydriasis	ORPHA:2131
Thauvin-Robinet-Faivre Syndrome	Epicanthus, Transient neutropenia, Sensorineural hearing impairment, Protruding ear, Coloboma, Ma...	OMIM:617107
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Cryptorchidism, Small hand, Short ...	OMIM:241410
Intellectual Developmental Disorder, Autosomal Recessive 78	Sensorineural hearing impairment, Hypopigmentation of the skin	OMIM:620237
Autoimmune Polyendocrinopathy Type 3	Decreased circulating antibody level, Alopecia, Vitiligo	ORPHA:227982
Acute Radiation Syndrome	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:454831
W Syndrome	Hypoplasia of the ulna, Telecanthus, Radial bowing, Broad uvula, Metatarsus adductus, Submucous c...	ORPHA:2804
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme...	ORPHA:52368
Arachnoid Cyst	Mydriasis	ORPHA:2356
Kniest Dysplasia	Retinal detachment, Rhizomelia, Disproportionate short-trunk short stature	OMIM:156550
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Short stature	ORPHA:2163
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Sensorineural hearin...	ORPHA:87
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasi...	ORPHA:261265
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,...	ORPHA:457395
Cornelia De Lange Syndrome 1	Micrognathia, High, narrow palate, Synophrys, Downturned corners of mouth, Microcornea, Widely sp...	OMIM:122470
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Renal insufficiency, Chronic active hepatitis, ...	OMIM:203800
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Retinal degeneration	OMIM:616211
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Macrotia, Fine hair, Ectopia lentis	OMIM:272300
Kabuki Syndrome 2	Joint laxity, Natal tooth, Epicanthus, Highly arched eyebrow, Micrognathia, Lower lip pit, Hip di...	OMIM:300867
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia	OMIM:606232
12Q14 Microdeletion Syndrome	Hyperpigmentation of the skin, Micrognathia, Abnormality of the spleen, Synophrys, Osteopoikilosi...	ORPHA:94063
4H Leukodystrophy	Delayed eruption of teeth, Cataract, Abnormality of the dentition, Optic atrophy, Hypodontia	ORPHA:289494
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Lacrimal duct stenosis, Optic nerve hypoplasia, Palpebral edema, Dermatochalasis, Thi...	ORPHA:221139
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Premature graying of hair	OMIM:614743
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Cryptorchidism, Optic atrophy, Retinal degeneration	OMIM:249270
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray...	ORPHA:163746
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Micrognathia, Downturned corners of mouth, Severe sensorineural hearing impairmen...	OMIM:620186
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:600081
Optic Atrophy 11	Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, Splenomegaly, Optic atrophy,...	OMIM:617302
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Cataract, Optic nerve hypoplasia, Micrognathia, Submucous cleft hard palate, Flexion ...	OMIM:222765
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Postaxial polydactyly, Malar flattening, Sparse eyebrow, Epiphyseal stippling, ...	OMIM:302960
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Low anterior hairline, Hypoplastic iliac wing, Clinoda...	OMIM:260660
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Epicanthus, Cataract, Posteriorly rotated ears, Micrognathia, Brushfield spots...	OMIM:214100
Pelvis-Shoulder Dysplasia	Abnormal pinna morphology, Camptodactyly of finger, Micrognathia, Bilateral microphthalmos, Cleft...	ORPHA:2839
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals	OMIM:210370
Meckel Syndrome 14	Hepatic fibrosis, Polycystic kidney dysplasia	OMIM:619879
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Synophrys, Hypopigmented skin patches, Aplastic/hypoplastic toenail	ORPHA:1295
Gardner Syndrome	Abnormality of the dentition, Pilomatrixoma, Supernumerary tooth, Abnormality of skin pigmentatio...	ORPHA:79665
Joubert Syndrome 37	Postaxial polydactyly, Cryptorchidism, High palate, Sparse hair, Microphthalmia, Decreased testic...	OMIM:619185
Joubert Syndrome 40	Almond-shaped palpebral fissure, Optic nerve hypoplasia	OMIM:619582
Antiphospholipid Syndrome, Familial	Retinal vasculitis, Retinal detachment, Vitritis, Central retinal artery occlusion	OMIM:107320
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormality of skin pigmentation	ORPHA:743
Marden-Walker Syndrome	Epicanthus, Arachnodactyly, Micrognathia, Wide anterior fontanel, High, narrow palate, Narrow mou...	OMIM:248700
Chromosome 19P13.13 Deletion Syndrome	Downslanted palpebral fissures, Optic atrophy, Optic nerve hypoplasia	OMIM:613638
Relapsing Fever	Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E...	ORPHA:91547
Cranioectodermal Dysplasia 4	Epicanthus, Joint hypermobility, Sagittal craniosynostosis, Onychogryposis, Hip dysplasia, Cutane...	OMIM:614378
Hypochondroplasia	Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Malar flattening, Limited ...	OMIM:146000
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Stenosis of the medullary cavity of the long bones, Persistence of pri...	ORPHA:93325
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia	OMIM:606893
White Forelock With Malformations	Low-set, posteriorly rotated ears, White forelock	ORPHA:2475
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Coloboma, Low-set ears	OMIM:601357
Alg12-Cdg	Retinal detachment, Partial absence of specific antibody response to Haemophilus influenzae type ...	ORPHA:79324
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Sparse hair, Microdontia,...	OMIM:129400
Solitary Median Maxillary Central Incisor	Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Torus palatinus, Solitary median m...	OMIM:147250
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Laurence-Moon Syndrome	Low-set, posteriorly rotated ears, Cataract, Cryptorchidism, Sensorineural hearing impairment, Ab...	ORPHA:2377
Pontocerebellar Hypoplasia, Type 7	Synophrys, Low-set ears, Macrotia, Hypopigmentation of the skin, Hirsutism	OMIM:614969
Neuromuscular Oculoauditory Syndrome	Epicanthus, Posteriorly rotated ears, Decreased nerve conduction velocity, Chorioretinal lacunae,...	OMIM:618733
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Agenesis of permanent teeth, Bone marrow hypocellularity, Microph...	OMIM:617244
Camurati-Engelmann Disease	Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ...	OMIM:131300
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow...	OMIM:614753
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Thick hair, Micrognathia, Generalized joint laxity, Pigmentary retinopathy, Hi...	ORPHA:502423
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangism affecting the ...	ORPHA:2547
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O...	ORPHA:289176
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Cutis Marmorata Telangiectatica Congenita	Multiple cafe-au-lait spots, Intrauterine growth retardation, Retinal detachment	ORPHA:1556
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Aromatase Deficiency	Osteopenia, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Femal...	ORPHA:91
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Long eyelashes, Abnormal auditory evoked potentials, Low posterior hairline	OMIM:617523
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Abnormal eyelid morphology, Micrognathia, Vi...	ORPHA:2556
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius, Narrow mouth	ORPHA:3469
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia o...	OMIM:610829
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia...	ORPHA:536471
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Synophrys, Short philtrum, Joint contracture of the 5th finger, Clinodactyly of the 5...	ORPHA:363611
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Flexion contracture, Retinal dystrophy, Facial palsy	OMIM:613155
Khan-Khan-Katsanis Syndrome	Tented upper lip vermilion, Highly arched eyebrow, Trichiasis, Epiblepharon, Micrognathia, Sensor...	OMIM:618460
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cryptorchidism, Macular degeneration, Choroidal neovascularization	ORPHA:404451
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Wide anterior fontanel, Cl...	OMIM:617925
Congenital Disorder Of Glycosylation, Type Iic	Widow's peak, Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Ring Chromosome 10 Syndrome	Sandal gap, Micrognathia, Tapered finger, Thin vermilion border, Long philtrum, Microphthalmia, D...	ORPHA:1438
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Small na...	OMIM:250410
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Hypopigmented skin patches, Nail dystrophy, Abnormality of the na...	ORPHA:678
Charge Syndrome	Anophthalmia, Eyelid coloboma, Hypoplasia of the semicircular canal, Abnormality of bone mineral ...	ORPHA:138
Plasminogen Deficiency, Type I	Conjunctivitis, Nephritis, Nephrolithiasis, Periodontitis	OMIM:217090
Cree Mental Retardation Syndrome	Posteriorly rotated ears, Cleft soft palate, Micrognathia, Coloboma, Low-set ears, Downslanted pa...	OMIM:606851
Renpenning Syndrome 1	Mandibular prognathia, Brittle hair, Micrognathia, Protruding ear, Coloboma, High palate, Short p...	OMIM:309500
Craniotubular Dysplasia, Ikegawa Type	Optic nerve compression, Optic atrophy, Optic neuropathy, Mydriasis	OMIM:619727
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Proteus Syndrome	Central heterochromia, Abnormality of skin pigmentation, Chorioretinal coloboma, Abnormality of t...	ORPHA:744
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Sensori...	OMIM:239000
Acrocephalopolydactyly	Hepatosplenomegaly, Epicanthus, Short long bone, Brachydactyly	ORPHA:221054
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Retinal degeneration	OMIM:616896
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis	OMIM:601539
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Abnormality of the hairline	OMIM:248450
Frontonasal Dysplasia 2	Telecanthus, Sparse eyelashes, Alopecia totalis, Craniosynostosis, Conical tooth, Sparse eyebrow,...	OMIM:613451
Microcephaly-Micromelia Syndrome	Craniosynostosis, Absent thumb, Absent radius, Micrognathia, Humeroradial synostosis, Cleft palat...	OMIM:251230
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Myopathy, Mitochondrial, And Ataxia	Growth delay, Pigmentary retinopathy, Short stature, Thick hair	OMIM:617675
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Alopecia totalis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis	OMIM:609638
Frank-Ter Haar Syndrome	Osteopenia, Abnormally large globe, Micrognathia, High palate, Short palm, Short phalanx of finge...	OMIM:249420
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,...	ORPHA:93552
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Metaphyseal...	ORPHA:163966
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Nail dystrophy, Hypodontia, Enamel hypoplasia, Anonychia	OMIM:616029
Facial Spasm	Anisocoria	OMIM:134300
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat...	OMIM:209885
Mucopolysaccharidosis Type 3	Synophrys, Flexion contracture, Reduced bone mineral density, Coarse hair, Otitis media, Thickene...	ORPHA:581
Porphyria Variegata	Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis	ORPHA:79473
Cockayne Syndrome A	Mandibular prognathia, Dry hair, Abnormal peripheral myelination, Ivory epiphyses of the phalange...	OMIM:216400
Hartnup Disease	Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2116
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperpigmentation of the skin	OMIM:613743
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Short philtrum, Widely spaced teeth, Chorioretinal coloboma, Conductive hearing...	OMIM:280000
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Barber-Say Syndrome	Delayed eruption of teeth, Ablepharon, Telecanthus, Wide mouth, Sparse or absent eyelashes, Breas...	ORPHA:1231
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia, Decreased testicular size	OMIM:618086
Lissencephaly 8	Microphthalmia, Cataract, Optic atrophy	OMIM:617255
Curry-Jones Syndrome	Bicoronal synostosis, Duplication of thumb phalanx, Lip pit, Blepharophimosis, Preaxial hand poly...	OMIM:601707
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst	OMIM:236500
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Micropenis, Hepatic fibrosis, Polycystic kidney dysplasia	OMIM:263520
Ovarian Dysgenesis 3	Primary amenorrhea, Female infertility	OMIM:614324
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Ectopia ...	OMIM:175780
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi...	ORPHA:79444
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Myoglobinuria, Elevated circulating creatinine concentration, Elev...	OMIM:620138
Hennekam-Beemer Syndrome	Abnormality of skin pigmentation, Irregular hyperpigmentation, Generalized hyperpigmentation, Mas...	ORPHA:2135
Cutis Marmorata Telangiectatica Congenita	Retinal detachment	OMIM:219250
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Hypoplasia of the maxilla, Micrognathia, Bilateral cryptorchidism, Fle...	OMIM:263650
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Synophrys, Cleft palate, Microphthalmia	ORPHA:261272
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Supernumerary nipple, Cleft upp...	OMIM:612530
Mycophenolate Mofetil Embryopathy	Micrognathia, Hypoplastic toenails, Orofacial cleft, Eyelid coloboma, Microtia, Anotia, Atresia o...	ORPHA:268249
Pachyonychia Congenita	Natal tooth, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Fingernail dysp...	ORPHA:2309
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A...	ORPHA:534
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Epicanthus, Overlapping toe, High, narrow palate, Cryptorchidism, Cleft...	OMIM:618494
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ...	OMIM:268310
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko...	ORPHA:77297
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Epicanthus, Telecanthus, Tented upper lip vermilion, Abnormality of pri...	ORPHA:438216
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Metaphyseal cho...	ORPHA:811
Cockayne Syndrome	Dry hair, Congenital contracture, Retinal arteriolar constriction, Lentiglobus, Retinal degenerat...	ORPHA:191
Alg6-Cdg	Rod-cone dystrophy, Retinal degeneration	ORPHA:79320
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti...	ORPHA:790
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair, Dental crowding, Joint hypermobility, Joint stiffness, Tracheobronchomalacia, Pierr...	OMIM:619184
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Elevated circulating creatinine concentration, Cholestasis, Hypoalb...	OMIM:608104
Meckel Syndrome, Type 10	Malformation of the hepatic ductal plate, Micropenis, Hypospadias, Renal cyst	OMIM:614175
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Ptosis, Flexion contracture, Optic atrophy, Low anteri...	OMIM:615663
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microdontia, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Blepharophim...	ORPHA:2728
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation	OMIM:240200
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300554
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Leukonychia, Clubbing of f...	ORPHA:2905
Mosaic Trisomy 8	Abnormal pinna morphology, Hypopigmented skin patches, Protruding ear, Abnormal antihelix morphol...	ORPHA:96061
Joubert Syndrome 8	Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Distal Deletion 12Q	Late onset atopic dermatitis, Unilateral cryptorchidism, Ectopic kidney, Pituitary adenoma, Bilia...	ORPHA:96149
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Optic nerve hypoplasia, Low-set ears	ORPHA:65288
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Abnormal nasolacr...	ORPHA:3220
Whim Syndrome	Decreased circulating antibody level, Vitiligo	ORPHA:51636
Cartilage-Hair Hypoplasia	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Epicanthus, Abnormally os...	ORPHA:175
Teebi-Shaltout Syndrome	Syndactyly, Ptosis, Telecanthus, Slow-growing hair, Rocker bottom foot, Highly arched eyebrow, Me...	OMIM:272950
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Persistence of primary teeth, Protruding tongue, Cryptorchidi...	OMIM:610253
Fanconi Anemia, Complementation Group C	Epicanthus, Pancytopenia, Hyperpigmentation of the skin, Hypergonadotropic hypogonadism, Absent t...	OMIM:227645
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Congenital hip dislocation, Hooded eyelid, Dental crowding,...	ORPHA:96170
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Abnormality of the dentit...	ORPHA:2323
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Autosomal Recessive Spastic Paraplegia Type 77	Bilateral cryptorchidism, Hip dysplasia, Macrodontia of permanent maxillary central incisor, Retr...	ORPHA:466722
Three M Syndrome 2	Delayed eruption of teeth, Dental malocclusion, Slender long bone, Short 5th finger, High palate,...	OMIM:612921
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Natal tooth, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Clef...	ORPHA:158687
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth, Breast hypoplasia, Hypoplastic nipples, Nail dysplasia	OMIM:129550
Familial Dysautonomia	Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heterochromia iridis	ORPHA:1764
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen...	ORPHA:238468
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Cryptorchidism, Cafe-au-lait spot, Small nail, Rod-co...	ORPHA:166035
Subaortic Stenosis-Short Stature Syndrome	Epicanthus, Micrognathia, Microdontia, Microphthalmia, Synostosis of carpal bones	ORPHA:3191
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Thrombocyt...	ORPHA:77259
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Osteopenia, Ptosis, Craniosynostosis, Cleft palate, Furrowed tongue, Downturned corners of mouth,...	ORPHA:453499
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Microphthalmia, Downslanted palpebral fissures, Broad thumb, Smo...	OMIM:614526
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci...	OMIM:226990
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Low anterior hairline, Downturned corners of ...	ORPHA:79500
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Increased bone mineral density, Cortical subperiosteal resorption of h...	ORPHA:94089
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Bloom Syndrome	Syndactyly, Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidism, Spotty hypop...	OMIM:210900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ...	ORPHA:79396
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Splenomegaly, Nephrotic syndrome, Malar rash, Nephritis	OMIM:603909
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Per...	ORPHA:1775
Bohring-Opitz Syndrome	Low-set, posteriorly rotated ears, Retinal atrophy, Micrognathia, Cleft lip, Synophrys, Limitatio...	ORPHA:97297
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ...	OMIM:241530
Prader-Willi Syndrome	Osteopenia, Downturned corners of mouth, Short palm, Hypopigmentation of the skin, Iris hypopigme...	OMIM:176270
Porphyria Cutanea Tarda	Hypopigmentation of the skin, Hyperpigmentation of the skin, Hirsutism, Hypertrichosis	ORPHA:101330
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Blepharospasm, Pigmentary retinopathy, Athetosis, Dystonia, Cra...	OMIM:617282
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Delayed eruption of pe...	OMIM:619269
Refsum Disease, Classic	Rod-cone dystrophy, Retinal degeneration, Cataract	OMIM:266500
Baraitser-Winter Cerebrofrontofacial Syndrome	Highly arched eyebrow, Optic disc coloboma, Low posterior hairline, Microcornea, Retinoschisis, H...	ORPHA:2995
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Onycholysis, Marked delay in eruption of permanent teeth, Yel...	OMIM:104570
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Abnormality of the pa...	ORPHA:2552
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia, Cryptorchidism, Deep philtrum, Thrombocytopenia	ORPHA:1237
Arboleda-Tham Syndrome	Mandibular prognathia, Bilateral cryptorchidism, Downturned corners of mouth, Conjunctivitis, Sho...	OMIM:616268
Deafness, X-Linked 5, With Peripheral Neuropathy	Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,...	OMIM:300614
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Loss of eyelashes, Hypopigmentation of the skin, Hyperpigmentation of t...	OMIM:263700
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Absent eyebrow, Anophthalmia, Dental crowding, Cleft upper lip, ...	OMIM:219000
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Wid...	OMIM:143095
Bickerstaff Brainstem Encephalitis	Anisocoria, Mydriasis	ORPHA:79138
Ceroid Lipofuscinosis, Neuronal, 10	Rod-cone dystrophy, Retinal atrophy	OMIM:610127
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi...	ORPHA:79443
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, High, narrow palate, Orofacial cleft, Microcornea, High palate, Ch...	OMIM:309800
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Micrognathia, Hypoplastic ilia, Cr...	ORPHA:85201
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Stuve-Wiedemann Syndrome 1	Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Blotching pigmentation of ...	OMIM:601559
Spondyloepiphyseal Dysplasia Congenita	Retinal detachment, Neonatal short-trunk short stature, Vitreoretinopathy	OMIM:183900
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Flexion contracture, Optic nerve hypoplasia, Narrow mouth	OMIM:614833
Fanconi Anemia	Abnormal eyelid morphology, Micrognathia, Abnormal femur morphology, Reduced bone mineral density...	ORPHA:84
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Shor...	OMIM:227650
Mosaic Trisomy 1	Hypoplastic thumbnail, Orofacial cleft, Finger clinodactyly, Congenital bilateral ptosis, Absent ...	ORPHA:1692
Koolen-De Vries Syndrome	Cataract, Abnormality of hair texture, Anteverted ears, Cryptorchidism, Macrotia, Overfolded heli...	OMIM:610443
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso...	OMIM:149730
Norrie Disease	Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,...	ORPHA:649
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Microglossia, Abnormal cranial nerve morphology, Narrow mouth,...	ORPHA:990
Melnick-Needles Syndrome	Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Coxa va...	OMIM:309350
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Marfan Syndrome	Flat cornea, Lens luxation, Ectopia lentis, Increased axial length of the globe, Hypoplasia of th...	ORPHA:558
Lead Poisoning	Delayed eruption of teeth, Decreased female libido, Abnormality of the menstrual cycle, Cranial h...	ORPHA:330015
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Telecanthus, Camptodactyly of finger, Lip pit, Supernumerary nipple, Large...	ORPHA:1236
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Sclerocornea, Cryptorchidism, Microphthalmia, Iris coloboma, Hearing impairment	ORPHA:77298
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Short stature, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Po...	ORPHA:99413
Mosaic Monosomy X	Alopecia, Short stature, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Po...	ORPHA:99228
Monosomy X	Alopecia, Short stature, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Po...	ORPHA:99226
Turner Syndrome	Alopecia, Short stature, Abnormal fingernail morphology, Numerous congenital melanocytic nevi, Po...	ORPHA:881
Warburg Micro Syndrome 2	Cataract, Asymmetry of the ears, Cryptorchidism, Optic atrophy, Developmental cataract, Microcorn...	OMIM:614225
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,...	ORPHA:42775
Wagro Syndrome	Aniridia, Cataract, Corneal opacity	OMIM:612469
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Micrognathia, Lens coloboma, Cupped ear, Joint contracture of the 4th fing...	OMIM:618914
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem...	ORPHA:439232
Sickle Cell Anemia	Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho...	ORPHA:232
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Epicanthus, Telecanthus, Thick hair, Joint stiffness, Thromb...	ORPHA:505248
Waardenburg Syndrome Type 3	White hair, Thick eyebrow, Hearing impairment	ORPHA:896
Primary Sjögren Syndrome	Abnormality of the peripheral nervous system, Decreased circulating antibody level, Increased cir...	ORPHA:289390
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Metaphyseal widening, Squared iliac...	OMIM:608728
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis	OMIM:619351
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Osteoporosis, U...	ORPHA:94068
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Melanocytic nevus, Fine...	ORPHA:978
Kenny-Caffey Syndrome, Type 2	Papilledema, Increased bone mineral density, Retinal calcification, Microphthalmia, Thickened cor...	OMIM:127000
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Chorioretinitis, Odontogenic keratocysts of the jaw, Coloboma	ORPHA:199276
Kabuki Syndrome	Orofacial cleft, Protruding ear, Microcornea, Coloboma, High palate, Widely spaced teeth, Microdo...	ORPHA:2322
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli...	OMIM:300373
8P Inverted Duplication/Deletion Syndrome	Frontal balding, Micrognathia, Long fingers, Synophrys, High, narrow palate, Hip dislocation, Abn...	ORPHA:96092
Mismatch Repair Cancer Syndrome 1	Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin	OMIM:276300
Mody	Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuria, Nephropathy, Pancreati...	ORPHA:552
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Synophrys, Aplasia of the distal phalanx of the 5th fin...	OMIM:608670
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor...	ORPHA:1834
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Hypoplastic nipples...	OMIM:103285
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,...	OMIM:135500
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Micrognathia, Glossoptosis, High palate, Cryptorchidism, Squared iliac bones, Giant p...	OMIM:611209
Branchiooculofacial Syndrome	Anophthalmia, Proximal placement of thumb, Micrognathia, Premature graying of hair, Clinodactyly ...	OMIM:113620
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Abnormal hair whorl, Reduced bone mineral density, Finger c...	ORPHA:79474
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:616546
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Short philtrum, Finger sy...	ORPHA:464738
Kearns-Sayre Syndrome	Sideroblastic anemia, Pigmentary retinopathy, Sensorineural hearing impairment, Ptosis	OMIM:530000
Meckel Syndrome, Type 2	Bile duct proliferation, Renal cyst	OMIM:603194
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Crypto...	ORPHA:2256
Marshall-Smith Syndrome	Irregular dentition, Brittle hair, Large sternal ossification centers, Synophrys, Glossoptosis, S...	OMIM:602535
Vacterl With Hydrocephalus	Anophthalmia, Micrognathia, Cryptorchidism, Hypoplasia of the radius, Hip dislocation, Microphtha...	ORPHA:3412
Brachytelephalangic Chondrodysplasia Punctata	Mixed hearing impairment, Cataract, Optic disc hypoplasia, Optic nerve hypoplasia, Calcaneal epip...	ORPHA:79345
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Optic atrophy, Retinal dysplasia	OMIM:253800
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Cafe-au-lait spot, Hypopigmented skin patches	ORPHA:457485
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Female hypogonadism, Microgna...	OMIM:607932
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, High palate, Anemia, Ptosis	OMIM:220110
Nail-Patella Syndrome	Abnormal iris pigmentation, Antecubital pterygium, Primary congenital glaucoma, Fingernail dyspla...	ORPHA:2614
3Q29 Microdeletion Syndrome	Dental crowding, Tapered finger, Abnormality of the dentition, Orofacial cleft, Abnormality of sk...	ORPHA:65286
Sotos Syndrome	Mandibular prognathia, Joint laxity, Sparse eyebrow, High, narrow palate, Cryptorchidism, Long me...	OMIM:117550
Marfan Syndrome	Cataract, Ectopia lentis, Microspherophakia, Increased axial length of the globe, Hypoplasia of t...	OMIM:154700
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Joint laxity, Epicanthus, Optic nerve hypoplasia, Micrognathia, Bilateral ptosis, Sensorineural h...	ORPHA:300570
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Low anterior hairline, Conductive hearing impairment, Prominent crus o...	ORPHA:794
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Smooth philtrum, Macular coloboma, Megaloblastic anemia, Thrombocytopenia, Optic atrophy, Pigment...	ORPHA:79282
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Coni...	OMIM:300291
Acrorenal-Mandibular Syndrome	Absent nipple, Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Polycystic kidn...	OMIM:200980
Skin Creases, Congenital Symmetric Circumferential, 1	Epicanthus, Micrognathia, Long fingers, Cleft palate, Upslanted palpebral fissure, High palate, H...	OMIM:156610
Neurofibromatosis, Familial Spinal	Freckling, Cafe-au-lait spot	OMIM:162210
Fanconi Anemia, Complementation Group E	Pancytopenia, Hyperpigmentation of the skin, Hypergonadotropic hypogonadism, Absent thumb, Absent...	OMIM:600901
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C...	ORPHA:411634
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Dental malocclusion...	OMIM:269500
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy, Bilateral sensorineural hearing impairment, Anemia, Ptosis	ORPHA:436271
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Coarse metaphyseal tra...	OMIM:618961
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Bowing of the long bones, Short long bone, Camptodactyly	OMIM:619751
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Postural tremor, Decreased fertility in female...	ORPHA:79239
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Abnormality of the humerus, S...	ORPHA:2538
Alexander Disease	Microcoria	OMIM:203450
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Tented upper lip vermilion, Cataract, Uplifted earlobe, Cleft palate, Furrowed tongue...	OMIM:616449
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Septo-optic dysplasia, Hooded eyelid, Micrognathi...	OMIM:619841
Mucopolysaccharidosis Type 2	Conductive hearing impairment, Retinal degeneration, Papilledema, Abnormal foveal morphology, Tem...	ORPHA:580
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Pustule, My...	ORPHA:139402
De Barsy Syndrome	Delayed eruption of teeth, Osteopenia, Epicanthus, Congenital hip dislocation, Cryptorchidism, Sm...	ORPHA:2962
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Mandibular prognathia, Optic nerve hypoplasia, Short philtrum, Joint contracture, Macrotia	OMIM:617864
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Epicanthus, Lymphopenia, Abnormal dental morphology...	ORPHA:2136
7Q31 Microdeletion Syndrome	Epicanthus, Telecanthus, Short palpebral fissure, Hypoplasia of the maxilla, Hypoplasia of the co...	ORPHA:251061
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Craniosynostosis, Ta...	OMIM:620005
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Recurrent fractures, ...	OMIM:616229
Aceruloplasminemia	Abnormality of retinal pigmentation, Torticollis, Tremor, Blepharospasm, Macular degeneration, Dy...	ORPHA:48818
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology, Nephroblastoma	ORPHA:2849
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Hyperpigmentation of the skin...	OMIM:224230
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Seborrheic dermatitis, Uveitis, Renal cyst, Con...	ORPHA:488618
Monosomy 9Q22.3	Delayed eruption of teeth, Epicanthus, Odontogenic keratocysts of the jaw, Cataract, Narrow mouth...	ORPHA:77301
Cocaine Intoxication	Mydriasis	ORPHA:90068
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir...	ORPHA:49041
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaco...	ORPHA:445038
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, External ear malformation, Hypopigmented skin patches, ...	ORPHA:1647
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia	ORPHA:250972
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Hypoplastic fingernail, Posteriorly rotated ears, Craniosynostosis, Limited elbow ex...	OMIM:123790
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia...	OMIM:156400
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cataract, Hypergonadotropic hypogonadism, Premature graying of hair, Azoospermia, Low-set ears, D...	ORPHA:280679
Rhyns Syndrome	Osteopenia, Brachydactyly, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Ptosis	OMIM:602152
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infe...	ORPHA:98754
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Thin upper lip vermilion, Sparse scalp hair, Optic nerve hypoplasia, Micrognathia, Narrow mouth, ...	OMIM:620029
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:370022
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Hyperautofluorescent macula...	OMIM:209900
Poikiloderma With Neutropenia	Joint laxity, Micrognathia, Sparse eyebrow, Carious teeth, Splenomegaly, Joint stiffness, Neutrop...	OMIM:604173
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Epicanthus, Congenital hip dislocation, Osteopenia,...	OMIM:278250
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Spondyloocular Syndrome	Retinal detachment, Short stature, Low posterior hairline	OMIM:605822
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Thin upper lip vermilion, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Al...	ORPHA:398079
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Ankle flexion contracture, Micrognathia, Myopic astigmatism, Long eyelashes, Bilater...	OMIM:617802
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia	OMIM:618890
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, Optic disc pallor, Microretrognathia, Multiple joint contractu...	ORPHA:468631
X-Linked Agammaglobulinemia	Alopecia, Hypopigmented skin patches, Sensorineural hearing impairment	ORPHA:47
Ramon Syndrome	Pigmentary retinopathy, Short stature, Optic disc pallor, Hypertrichosis	OMIM:266270
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Cleft palate, Pigmentary retinopathy, Microphthalmia, Iris coloboma, Hear...	OMIM:309801
Peters-Plus Syndrome	Short lingual frenulum, Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, Lim...	OMIM:261540
Immunodeficiency 96	Recurrent otitis media, Multicystic kidney dysplasia, Eczema	OMIM:619774
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Overtubulated long bones, Absent eyelashes, Sparse eyebrow, Wi...	OMIM:275210
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Onychauxis, High palate, Advanced eruption of teeth, Hypertrichosis	OMIM:262190
Smith-Lemli-Opitz Syndrome	Sclerocornea, Micrognathia, Advanced eruption of teeth, Iris coloboma, Low-set, posteriorly rotat...	ORPHA:818
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infe...	ORPHA:98793
Slc35A2-Cdg	Sensorineural hearing impairment, Hypopigmentation of the skin	ORPHA:356961
Den Hoed-De Boer-Voisin Syndrome	Smooth philtrum, Delayed eruption of teeth, Sandal gap, Joint hypermobility, Carious teeth, Widow...	OMIM:619229
Developmental And Epileptic Encephalopathy 1	Choreoathetosis, Microphthalmia, Dystonia	OMIM:308350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Micrognathia, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the ...	OMIM:253280
Mucopolysaccharidosis Type 2, Severe Form	Flexion contracture, Conductive hearing impairment, Papilledema, Abnormal dental morphology, Abno...	ORPHA:217085
Ruvalcaba Syndrome	Hypopigmented skin patches, Generalized hirsutism	ORPHA:3121
Nail-Patella Syndrome	Keratoconus, Ridged nail, Cataract, Concave nail, Antecubital pterygium, Microcornea, Microphakia...	OMIM:161200
Matthew-Wood Syndrome	Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal ...	ORPHA:2470
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infe...	ORPHA:177904
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infe...	ORPHA:177901
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Wide distal femoral metaphysis, Delayed epiphyseal ossification, Squared i...	OMIM:613320
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism	ORPHA:1381
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cataract	OMIM:618805
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Epicanthus, Supernumerary nipple, Micrognathia, Anteverted ears, Deep p...	OMIM:613884
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s...	ORPHA:177907
Xylt1-Cdg	Joint laxity, Coxa valga, Synophrys, Flared metaphysis, Cleft palate, Short long bone, Thick verm...	ORPHA:370930
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:270700
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Microphthalmia, Syndromic 9	Anophthalmia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Blep...	OMIM:601186
Cognitive Impairment With Or Without Cerebellar Ataxia	Optic nerve hypoplasia	OMIM:614306
Steinfeld Syndrome	Abnormal pinna morphology, Hearing impairment, Bifid uvula, Retinal coloboma, Microphthalmia, Iri...	OMIM:184705
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Submucous cleft ha...	OMIM:301043
Frontofacionasal Dysplasia	Telecanthus, Cataract, Cleft upper lip, Microphthalmia, Ankyloblepharon, Orofacial cleft, Microco...	OMIM:229400
Mucopolysaccharidosis Type 2, Attenuated Form	Flexion contracture, Conductive hearing impairment, Papilledema, Abnormal dental morphology, Abno...	ORPHA:217093
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Micrognathia, High, narrow palate, Abnormal finger m...	ORPHA:3472
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Sparse ...	OMIM:139210
Congenital Fibrosis Of Extraocular Muscles	Cataract, Optic nerve hypoplasia, Congenital sensorineural hearing impairment, Levator palpebrae ...	ORPHA:45358
Duane-Radial Ray Syndrome	Epicanthus, Cataract, Optic disc hypoplasia, Facial palsy, Aganglionic megacolon, Sensorineural h...	OMIM:607323
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Thrombocytopenia, Gingival overgrowth...	ORPHA:508542
Geleophysic Dysplasia 1	Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short foot, Upslant...	OMIM:231050
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Pantothenate Kinase-Associated Neurodegeneration	Dystonia, Bull's eye maculopathy, Optic atrophy, Craniofacial dystonia, Leg dystonia, Choreoathet...	ORPHA:157850
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Ectropion of lower eyelids, Eyelid coloboma, Oligodontia, Widely spaced teet...	OMIM:615873
Myoclonic-Astatic Epilepsy	Syndactyly, Thin upper lip vermilion, Frontal balding, Thick lower lip vermilion, Wide mouth, Lon...	ORPHA:1942
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Cleft soft palate, Micrognathia, Cryptorchidism, ...	OMIM:154500
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Reduced bone mineral density, Glossoptos...	ORPHA:828
Cat Eye Syndrome	Epicanthus, Micrognathia, Cleft palate, Low-set ears, Chorioretinal coloboma, Microphthalmia, Ste...	OMIM:115470
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Hypogonadotropic hypogonadism, Hip dislocation, Oligodont...	OMIM:614381
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Large tarsal bones, Micrognathia, Pierre-Robin sequence, Flared metaphysis,...	OMIM:215150
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Seckel Syndrome 10	Retinal detachment, Severe short stature	OMIM:617253
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Highly arched eyebrow, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermil...	OMIM:617865
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Biliary tract neoplasm, Abnormality of th...	ORPHA:2869
Hajdu-Cheney Syndrome	Cryptorchidism, Hypospadias, Polycystic kidney dysplasia, Renal cyst	OMIM:102500
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Dysmenorrhea, Micrognathia, Splenomegaly, Osteolytic defects of the phalanges of the hand, Second...	ORPHA:280365
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Alopecia, Hypoplastic fingernail, Absent toe, Split hand, Absen...	ORPHA:974
Dyskeratosis Congenita, Autosomal Dominant 2	Reticulated skin pigmentation, Premature graying of hair, White forelock, Nail dystrophy, Nail dy...	OMIM:613989
Koolen-De Vries Syndrome	Vertebral fusion, Epicanthus, Hypopigmentation of hair, Arachnodactyly, Abnormal dental enamel mo...	ORPHA:96169
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract, Hypogonadism, Hearing impairment	OMIM:302950
Skin Creases, Congenital Symmetric Circumferential, 2	Micrognathia, Synophrys, Low anterior hairline, Short palm, Microdontia, Clinodactyly of the 5th ...	OMIM:616734
Joubert Syndrome 6	Retinal degeneration, Bile duct proliferation, Chorioretinal coloboma	OMIM:610688
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Laron Syndrome	Delayed menarche, Short long bone	OMIM:262500
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Hyperopic astigmatism, Retinopathy, Retinal degeneration	OMIM:252600
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Short nail, Deep philtrum, Microcornea, Large earlobe, Astigmatism, Lo...	ORPHA:1675
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Dent Disease 1	Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300009
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Optic atrophy, Oligodontia, Hypodontia, Autonomic bladder dysfunction	ORPHA:447896
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Meckel Syndrome, Type 4	Bile duct proliferation, Renal cyst	OMIM:611134
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration, Cataract, Tortuosity of conjunctival vessels	ORPHA:284289
Harrod Syndrome	Hypopigmented skin patches, Protruding ear	ORPHA:2115
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Ma...	OMIM:614524
Adnp Syndrome	Joint laxity, Thin upper lip vermilion, Sparse scalp hair, Bilateral ptosis, Thick lower lip verm...	ORPHA:404448
Scorpion Envenomation	Miosis, Mydriasis	ORPHA:466677
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Telecanthus, Hypopigmentation of hair, Dry hair, Down-sloping shoulders, Micro...	ORPHA:1974
Pendred Syndrome	Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle...	ORPHA:705
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility, Recurrent sinusitis	OMIM:300991
Maternal Uniparental Disomy Of Chromosome 4	Short stature, Postnatal growth retardation, Optic atrophy, Pigmentary retinopathy, Rod-cone dyst...	ORPHA:96180
Meckel Syndrome, Type 1	Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p...	OMIM:249000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu...	OMIM:604292
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Clinodactyl...	ORPHA:37553
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Congenital hypertrophy of retinal pigment epit...	ORPHA:733
Aicardi Syndrome	Retinal detachment, Postnatal growth retardation, Chorioretinal lacunae, Optic disc coloboma, Opt...	OMIM:304050
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Retinal degeneration	OMIM:615558
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Premature Ovarian Failure 15	Irregular menstruation, Oligomenorrhea, Secondary amenorrhea	OMIM:618096
Acromelic Frontonasal Dysostosis	Telecanthus, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cleft upper lip, Cl...	OMIM:603671
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Joint hypermob...	OMIM:300990
Lissencephaly Due To Tuba1A Mutation	Microretrognathia, Aganglionic megacolon, Optic nerve hypoplasia	ORPHA:171680
Fanconi Anemia, Complementation Group F	Hyperpigmentation of the skin, Absent thumb, Short thumb, Thrombocytopenia, Hypoplasia of the rad...	OMIM:603467
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Cysticercosis	Retinal detachment, Abnormal optic chiasm morphology, Increased circulating antibody level, Chori...	ORPHA:1560
Linear Nevus Sebaceus Syndrome	Alopecia, Melanocytic nevus, Microphthalmia, Irregular hyperpigmentation, Iris coloboma	ORPHA:2612
Hsd10 Disease, Infantile Type	Rod-cone dystrophy, Optic atrophy, Retinal degeneration	ORPHA:391428
Cockayne Syndrome Type 3	Dry hair, Flexion contracture, Premature graying of hair, Microcornea, Lentiglobus, Adult onset s...	ORPHA:90324
Monosomy 9P	Proximal placement of thumb, Micrognathia, Synophrys, High palate, Thin nail, Highly arched eyebr...	ORPHA:261112
Fraser Syndrome	Finger syndactyly, Toe syndactyly, Anophthalmia, Dental crowding, Abnormal hair pattern, Cleft up...	ORPHA:2052
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure...	OMIM:154230
Monosomy 13Q14	Epicanthus, Cataract, Micrognathia, Protruding ear, Low-set ears, Thickened helices, Retinoblasto...	ORPHA:1587
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Hypoplasia of eyelid, Cleft soft palate, Leu...	OMIM:619321
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, C...	ORPHA:93316
Noonan Syndrome	Low-set, posteriorly rotated ears, Abnormal hair quantity, Micrognathia, Aplasia of the semicircu...	ORPHA:648
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Retinal atrophy	OMIM:617236
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Retinal degeneration	ORPHA:542306
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Micrognathia, Sparse eyebrow, Synophr...	ORPHA:495875
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia,...	ORPHA:542323
Spastic Paraplegia 54, Autosomal Recessive	Telecanthus, High palate, Optic nerve hypoplasia	OMIM:615033
Emanuel Syndrome	Broad jaw, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Cleft palate, Upslan...	OMIM:609029
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Retinal degeneration	ORPHA:442835
Familial Partial Lipodystrophy, Dunnigan Type	Dysmenorrhea, Secondary amenorrhea, Abnormality of the nail, Advanced eruption of teeth, Generali...	ORPHA:2348
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Short stature, Optic atrophy, Abnormal autonomic nervous system physiolo...	OMIM:231550
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Craniometaphyseal Dysplasia, Autosomal Dominant	Sclerosis of skull base, Cranial hyperostosis, Calvarial osteosclerosis	OMIM:123000
Musculocontractural Ehlers-Danlos Syndrome	Retinal detachment	ORPHA:2953
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m...	ORPHA:93352
Spermatogenic Failure 14	Male infertility, Azoospermia	OMIM:615842
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too...	OMIM:150400
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Osteolysis, Xanthel...	ORPHA:35687
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Absent lacrimal punctum, Alopecia, Abnormal hair pattern, Abnormality ...	ORPHA:2315
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral...	ORPHA:391641
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Thrombocytopenia, Pigmentary retinopathy, Low-set ears, Neutropenia, Macrot...	OMIM:277400
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Patchy atrophy of the retinal pigment epithelium, Juvenile cataract, Rod-cone dystrophy	ORPHA:436245
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Retinal detachment, Abnormality of the brachial nerve plexus	ORPHA:1900
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Epiphyseal dysplasia, Joint stiffness, Carious teeth, Splenomegaly, Me...	OMIM:253200
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge...	OMIM:200995
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Birth length less than 3rd percentile, Intrauterine growth...	ORPHA:464311
Mucolipidosis Ii Alpha/Beta	Osteopenia, Brittle hair, Micrognathia, Metaphyseal widening, Sparse hair, Progressive alveolar r...	OMIM:252500
Aceruloplasminemia	Retinal degeneration	OMIM:604290
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hypospadias, Acne, Seborrheic dermatitis, Cryptorchidism, Splenomegaly, Renal...	ORPHA:567
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu...	OMIM:129900
Mend Syndrome	Telecanthus, Overlapping toe, Broad hallux, Micrognathia, Asymmetry of the mouth, Long fingers, W...	ORPHA:401973
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy, Proportionate short stature, Intrauterine growth retardation	ORPHA:71212
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Bowing of the legs, Hypoplastic ilia, Micrognathia, Cryptorchidism, Flexion con...	ORPHA:1865
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Proteinuria, Nodular regenerative hyperplasia of liver, Elevated circulating creatinine concentra...	ORPHA:247691
Hatipoglu Immunodeficiency Syndrome	Premature graying of hair, Fair hair, Hyperpigmented/hypopigmented macules	OMIM:620331
Perrault Syndrome 2	Sensorineural hearing impairment, Streak ovary, Amenorrhea	OMIM:614926
Atelosteogenesis Type I	Telecanthus, Short femur, Micrognathia, Abnormal ossification involving the femoral head and neck...	ORPHA:1190
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Thick hair, Abnormality of the dentition, Onychauxis, Low...	ORPHA:769
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Cryptorchidism, Dilatation of the renal pelvis, Stage 5 chronic kidn...	ORPHA:2044
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micrognathia, Abnormal tibia morphology, Flexion contrac...	ORPHA:666
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Hyperostosis Cranialis Interna	Calvarial hyperostosis, Osteosclerosis of the base of the skull, Hyperostosis cranialis interna	OMIM:144755
Congenital Fibrinogen Deficiency	Abnormality of the subungual region, Splenic rupture, Clubbing of fingers, Gingival bleeding, Mic...	ORPHA:335
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Fine hair, Microtia, Low-set ears, Sparse hair, Woolly hair, Cafe-au-la...	OMIM:222470
Fanconi Anemia, Complementation Group D2	Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Preaxial hand polydact...	OMIM:227646
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Cataract	OMIM:619780
Tubulointerstitial Nephritis And Uveitis Syndrome	Abnormality of retinal pigmentation, Nongranulomatous uveitis, Anterior uveitis, Choroidal neovas...	ORPHA:91500
Phakomatosis Pigmentokeratotica	Melanocytic nevus, Coloboma, Patchy alopecia, Pheochromocytoma, Hypophosphatemic rickets	ORPHA:2874
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o...	OMIM:268305
Septooptic Dysplasia	Optic disc hypoplasia, Optic nerve hypoplasia	OMIM:182230
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car...	OMIM:232220
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma...	ORPHA:2075
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
Distal Deletion 10Q	Thin upper lip vermilion, Epicanthus, Craniosynostosis, Micrognathia, Hypoplastic toenails, Conge...	ORPHA:96148
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Highly arched...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Highly arched...	ORPHA:353277
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot...	OMIM:616959
Axial Spondylometaphyseal Dysplasia	Cataract, Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy	ORPHA:168549
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Optic atrophy, Cochlear degeneration, Hearing impairment	ORPHA:95433
Roberts-Sc Phocomelia Syndrome	Micrognathia, Knee flexion contracture, Coloboma, Eyelid coloboma, High palate, Shallow orbits, S...	OMIM:268300
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Ogden Syndrome	Global glomerulosclerosis, Eczema, Cryptorchidism, Jaundice, Microvesicular hepatic steatosis, Hy...	OMIM:300855
Werner Syndrome	Alopecia of scalp, Cataract, Retinal degeneration	OMIM:277700
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Synophrys, Protruding ear, Abnormality of skin pigmentation, Coloboma, Short...	OMIM:619475
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c...	ORPHA:447788
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Primary hyp...	ORPHA:99880
Craniosynostosis 4	Optic nerve hypoplasia, Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Ma...	OMIM:600775
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, T...	ORPHA:466768
Gaucher Disease	Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Recurrent ...	ORPHA:355
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Retinal degeneration	OMIM:615630
Necrobiosis Lipoidica	Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Decreased nerve cond...	ORPHA:101085
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Sparse scalp hair, Cryptorchid...	ORPHA:1465
Charge Syndrome	Anophthalmia, Micrognathia, Coloboma, Iris coloboma, Facial palsy, Cleft upper lip, Aplasia of th...	OMIM:214800
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Genu va...	OMIM:264090
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Down-sloping shoulde...	OMIM:109400
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial nephriti...	OMIM:251000
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Short iliac bo...	ORPHA:3003
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Limb joint contracture, Lagophthalmos, Bilateral ptos...	ORPHA:404454
Prader-Willi Syndrome	Osteopenia, Hypopigmentation of hair, Abnormality of the dentition, Almond-shaped palpebral fissu...	ORPHA:739
Mogs-Cdg	Decreased circulating IgG level, Absent brainstem auditory responses, Alopecia, Optic atrophy, De...	ORPHA:79330
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Lacrimal duct atresia, Hyperpigmented streaks, Delayed eruption of primary teeth	OMIM:300952
Greenberg Dysplasia	Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variation in bone mi...	OMIM:215140
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Sensorineural hearing impairment, Keratoconjunctivitis sicca, Conjunctivitis...	OMIM:278730
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel...	OMIM:114290
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High palate, Abno...	ORPHA:93315
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Ptosis, Epicanthus, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Hypoplasia of the ...	ORPHA:306542
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Sensorineural hearing impairment, Aplasia/Hypoplasia of the earlobes, Hypopigmented skin patches,...	ORPHA:2637
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Primary hyp...	ORPHA:143
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Short stature, Generalized hirsutism, Abnormality of visual ...	ORPHA:1933
Knobloch Syndrome 2	Retinal detachment, Vitreoretinopathy, Vitreous floaters	OMIM:618458
Fibrochondrogenesis 1	Hypoplastic toenails, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, D...	OMIM:228520
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ...	OMIM:250420
Ciliary Dyskinesia, Primary, 34	Male infertility, Recurrent sinusitis, Immotile sperm	OMIM:617091
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl...	ORPHA:29073
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Impaired T cell function, Hypermelanotic macule, Abnormal femoral...	ORPHA:1830
Cataract 47	Microcornea, Cataract	OMIM:612018
Short-Rib Thoracic Dysplasia 12	Natal tooth, Epicanthus, Hypoplastic scapulae, Median cleft lip, Median cleft lip and palate, Ham...	OMIM:269860
Joubert Syndrome 2	Retinal dystrophy, Optic disc coloboma, High palate, Low-set ears, Chorioretinal coloboma, Microp...	OMIM:608091
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Median cleft lip, Sandal gap, Bilateral cleft lip, Postaxial pol...	OMIM:612651
Wolf-Hirschhorn Syndrome	Rieger anomaly, Highly arched eyebrow, Low posterior hairline, Hyperconvex fingernails, Ectopia p...	OMIM:194190
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis	OMIM:615398
Mowat-Wilson Syndrome	Delayed eruption of teeth, Cataract, Aganglionic megacolon, Uplifted earlobe, Supernumerary nippl...	OMIM:235730
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Low anterior hairline, Cerebral atrop...	OMIM:616875
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Optic nerve hypoplasia, Cleft palate, Sensorineural hearing impairment	ORPHA:3157
Wrinkly Skin Syndrome	Delayed eruption of teeth, Osteopenia, Epicanthus, Congenital hip dislocation, Carious teeth, Cry...	ORPHA:2834
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G...	OMIM:300106
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Hepatoerythropoietic Porphyria	Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski...	ORPHA:95159
Diffuse Cutaneous Mastocytosis	Mixed hypo- and hyperpigmentation of the skin	ORPHA:79456
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Primary Ciliary Dyskinesia	Male infertility, Abnormal sperm motility, Female infertility, Asplenia, Clubbing, Polysplenia, C...	ORPHA:244
Degcags Syndrome	Osteopenia, Micrognathia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Leu...	OMIM:619488
Heart And Brain Malformation Syndrome	Camptodactyly of finger, Wide anterior fontanel, Cleft lip, High, narrow palate, Thick lower lip ...	OMIM:616920
Craniosynostosis And Dental Anomalies	Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Broad hallux, Dental crowding, S...	OMIM:614188
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture	OMIM:617105
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Epicanthus, Toe syndactyly, Cryptorchidism, Short foot, Joint hyperflexibil...	ORPHA:250989
Short Stature With Microcephaly And Distinctive Facies	Sparse eyebrow, Spotty hyperpigmentation, Sparse scalp hair, Spotty hypopigmentation	OMIM:615789
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Conjunctivitis, Renal cyst	OMIM:615560
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Glomerulonephritis, Decreased response ...	ORPHA:470
Cornelia De Lange Syndrome	Proximal placement of thumb, Micrognathia, Synophrys, Low anterior hairline, Downturned corners o...	ORPHA:199
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Abnormality of the dentition, Tapered finger, Thick lower lip vermilion, Abnormal sh...	ORPHA:261652
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Epicanthus, Micrognathia, Cryptorchidism, Cl...	OMIM:247200
Morgagni-Stewart-Morel Syndrome	Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis, Hirsutism	ORPHA:77296
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Iridocyclitis, Alopecia, Retinal atrophy	ORPHA:412057
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Synophrys, Low anterior hairline, Oligo...	OMIM:612289
Peroxisome Biogenesis Disorder 10B	Cataract, Posteriorly rotated ears, Low-set ears	OMIM:617370
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R...	ORPHA:140
Listeriosis	Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Pustule, Myocarditis, Peritonitis, Jaundic...	ORPHA:533
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Reduced bone mineral density, Agammaglobulinemia, Fine hair, Long fibula, Abnormal me...	ORPHA:935
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Diffuse Alveolar Hemorrhage	Hematuria, Elevated circulating creatinine concentration, Proteinuria	ORPHA:90060
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal...	OMIM:606519
Femoral-Facial Syndrome	Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Polycystic kidney dy...	OMIM:134780
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia	OMIM:619980
D-Glyceric Aciduria	Sensorineural hearing impairment, Optic nerve hypoplasia	OMIM:220120
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc...	OMIM:613470
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella, Recurrent sinusitis	OMIM:620197
Abetalipoproteinemia	Osteopenia, Abnormality of retinal pigmentation, Reticulocytosis, Acanthocytosis, Anemia, Keratoc...	ORPHA:14
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Hypoplastic pubic...	OMIM:151210
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor	OMIM:616390
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Proteinuria, Pneumonia, Skin rash, Enlarged polycystic ovaries, Osteoarthritis,...	ORPHA:2298
Late Infantile Neuronal Ceroid Lipofuscinosis	Astigmatism, Retinal degeneration	ORPHA:168491
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Orofacial cleft, Coarse hair, Hypop...	ORPHA:1896
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
8Q24.3 Microdeletion Syndrome	Branchial cyst, Microretrognathia, Epicanthus, Smooth philtrum, Posteriorly rotated ears, Optic n...	ORPHA:508488
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,...	ORPHA:90038
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate, Shallow orb...	ORPHA:798
Coffin-Siris Syndrome 1	Dry hair, Conical tooth, Prominent interphalangeal joints, Short philtrum, High palate, Clinodact...	OMIM:135900
Mosaic Variegated Aneuploidy Syndrome	Epicanthus, Micrognathia, Osteolysis, Cleft palate, Multiple cafe-au-lait spots, Acute lymphoblas...	ORPHA:1052
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Retinal detachment, Abnormal optic chiasm morphology, Short stature, Breast aplasia, Intrauterine...	ORPHA:268261
Self-Improving Dystrophic Epidermolysis Bullosa	Abnormality of skin pigmentation, Abnormality of the subungual region, Anonychia, Nail dystrophy	ORPHA:79411
Mosaic Trisomy 9	Camptodactyly of finger, Rocker bottom foot, Micrognathia, Asplenia, Cryptorchidism, Limitation o...	ORPHA:99776
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Natal tooth, Cataract, Dental crowding, Carious teeth, Pilomatrixoma, Sensorineural...	ORPHA:353281
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Telecanthus, Posteriorly rotated ears, Retinitis, Hamartoma of to...	OMIM:615948
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Epicanthus, Posteriorly rotated ears, Underdeveloped superior crus of ...	ORPHA:369950
Pallister-Hall Syndrome	Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Y-shaped metacarpals, Toe syndactyly, Mesoax...	OMIM:146510
Neurodegeneration With Brain Iron Accumulation 1	Hyperpigmentation of the skin, Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Global b...	OMIM:234200
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con...	ORPHA:36234
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Hypoplasia of the bladder, Recurrent urinary tract infections, Mul...	OMIM:614527
Ciliary Dyskinesia, Primary, 9	Male infertility, Chronic sinusitis, Recurrent sinusitis	OMIM:612444
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Laterally extended eyebrow, Synophrys, Low anterior hairline, Hirsutism, Keratoconjunctivitis sic...	OMIM:618479
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Broad hallux, Arachnodactyly, Malar flattening, Dental malocclusion, High palate, S...	OMIM:601552
Lethal Congenital Contracture Syndrome 10	Stiff neck, Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short long bone, High pala...	OMIM:617022
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Martinez-Frias Syndrome	Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ...	OMIM:601346
Zygomycosis	Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton...	ORPHA:73263
Wiskott-Aldrich Syndrome	Hyperostosis, Arthritis	ORPHA:906
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia	OMIM:618829
Lymphedema-Distichiasis Syndrome	Ptosis, Micrognathia, Cleft upper lip, Yellow nails, Cleft palate, Conjunctivitis, Microphthalmia...	OMIM:153400
Premature Aging Syndrome, Okamoto Type	Cataract, Abnormal pinna morphology, Low-set ears	OMIM:601811
Tetragametic Chimerism	Hypopigmented skin patches	ORPHA:199310
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Pancreatic And Cerebellar Agenesis	Abnormal pinna morphology, Optic nerve hypoplasia, Joint stiffness, Flexion contracture, Low-set ...	OMIM:609069
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit...	OMIM:617595
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Wide anterior font...	ORPHA:15
Pearson Syndrome	Reticulocytosis, Pancytopenia, Median cleft lip and palate, Cataract, Hearing impairment, Thrombo...	ORPHA:699
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Pineal cyst, Decreased serum creat...	OMIM:618885
Restrictive Dermopathy	Osteopenia, Natal tooth, Telecanthus, Entropion, Multiple joint contractures, Camptodactyly of fi...	ORPHA:1662
Complete Androgen Insensitivity Syndrome	Male infertility, Testicular neoplasm, Sparse axillary hair, Bilateral cryptorchidism, Sparse pub...	ORPHA:99429
Hereditary Pheochromocytoma-Paraganglioma	Aniridia	ORPHA:29072
Multiple Osteochondromas	Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn...	ORPHA:321
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Choroidal neovascularization, Optic neuropathy, Retinal crystals,...	OMIM:259900
Igg4-Related Pachymeningitis	Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis	ORPHA:449427
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Synophrys, Abnormality of the ear, Downturned corners of mouth...	ORPHA:3455
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Renal cyst, Nephrotic syn...	OMIM:212065
Gray Platelet Syndrome	Abnormality of the menstrual cycle	ORPHA:721
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Fanconi Anemia, Complementation Group L	Micrognathia, Absent radius, Absent thumb, Cleft palate, Upslanted palpebral fissure, Bone marrow...	OMIM:614083
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Persistence...	ORPHA:97360
Pseudoxanthoma Elasticum	Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse...	OMIM:264800
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Chromomycosis	Hypopigmented skin patches	ORPHA:182
Multiple Sulfatase Deficiency	Corneal opacity, Retinal degeneration	OMIM:272200
Mannosidosis, Alpha B, Lysosomal	Thick eyebrow, Low anterior hairline, Retinal degeneration, Hypertrichosis	OMIM:248500
Desmosterolosis	Epicanthus, Micrognathia, Generalized osteosclerosis, Alveolar ridge overgrowth, Cleft palate, Gi...	OMIM:602398
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma	OMIM:180200
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, High palate, Conductive hearing impairment, Bifid uvula, Sa...	OMIM:218600
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Syno...	OMIM:610828
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den...	OMIM:619503
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia	OMIM:220500
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I...	OMIM:223900
Autoimmune Hypoparathyroidism	Increased bone mineral density, Conjunctivitis	ORPHA:36913
Bloom Syndrome	Sparse eyelashes, Paronychia, Patchy alopecia, Cafe-au-lait spot, Hypopigmentation of the skin	ORPHA:125
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cryptorchidism, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Prolonged neonatal jau...	OMIM:210710
Plague	Conjunctival hyperemia, Mydriasis	ORPHA:707
Chand Syndrome	Curly hair, Short fifth metatarsal, Cleft palate, Ankyloblepharon, Agenesis of permanent teeth, A...	ORPHA:1401
Pseudotrisomy 13 Syndrome	Posteriorly rotated ears, Cleft upper lip, Upslanted palpebral fissure, Low-set ears, Microphthal...	OMIM:264480
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Optic nerve hypoplasia	ORPHA:572013
Xq21 Microdeletion Syndrome	Stapes ankylosis, Abnormal chorioretinal morphology, Chorioretinal degeneration, Dilatated intern...	ORPHA:1435
Cystinosis, Nephropathic	Hypopigmentation of hair, Short stature, Retinal pigment epithelial mottling, Cerebral atrophy, G...	OMIM:219800
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abnormal calcif...	OMIM:271665
Galloway-Mowat Syndrome 3	Epicanthus, Arachnodactyly, Micrognathia, Narrow mouth, Hip dislocation, High palate, Camptodacty...	OMIM:617729
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Abnormal vestibular function, Peripheral axonal neuropathy, Cataract, Retinal pigment epithelial ...	OMIM:607459
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ...	ORPHA:71505
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Ptosis, Highly arched eyebrow, Cryptorchidism, Short toe, Widow's peak, Orofac...	ORPHA:1519
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Tapered finger, Splenomegaly, Flexion contract...	OMIM:301072
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas	ORPHA:1203
Joubert Syndrome 21	Splenomegaly, Anophthalmia, Chronic sinusitis, Ptosis	OMIM:615636
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Asparagine Synthetase Deficiency	Macrotia, Micrognathia, Optic nerve hypoplasia, Simple ear	OMIM:615574
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Metaphyseal widening, Phthisis bulbi, Osteoporosis, Tibial bowin...	OMIM:259770
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Hyposegmentation of neutrophil...	OMIM:618019
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Micrognathia, Synophrys, Widely spaced teeth, High palate, Microdontia, Cl...	OMIM:612474
Collagenoma, Familial Cutaneous	Iris atrophy, Sensorineural hearing impairment, Congenital posterior occipital alopecia	OMIM:115250
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Telecanthus, Posteriorly rotated ear...	OMIM:620330
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Retinal detachment	OMIM:225400
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy	OMIM:616881
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micrognathia, Cryptorchidism, Short long bone, Narrow mouth, Malar flat...	OMIM:224410
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Iliac crest serrati...	ORPHA:239
Opitz Gbbb Syndrome	Natal tooth, Telecanthus, Craniosynostosis, Micrognathia, Cleft lip, Cryptorchidism, Widow's peak...	ORPHA:2745
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals	ORPHA:411629
Prolactinoma	Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnorma...	ORPHA:2965
Hurler Syndrome	Opacification of the corneal stroma, Corneal opacity, Hirsutism, Retinal degeneration	OMIM:607014
Fryns Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Prominent fingertip pads, Microretrognat...	OMIM:229850
Fryns Syndrome	Hypoplastic fingernail, Tented upper lip vermilion, Median cleft lip, Micrognathia, Cryptorchidis...	ORPHA:2059
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas...	ORPHA:230
Craniofacial Microsomia 1	Anophthalmia, Block vertebrae, Blepharophimosis, Hypoplasia of the maxilla, Micrognathia, Partial...	OMIM:164210
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Posteriorly rotated ears, Synophrys, Hypopigmentation of the skin	OMIM:301066
Pyruvate Dehydrogenase E2 Deficiency	Retinal degeneration	ORPHA:79244
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormality of skin pigmentation, Premature graying of hair, Abnormal hair morphology	ORPHA:1979
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Gland...	ORPHA:2473
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, H...	ORPHA:340
Witteveen-Kolk Syndrome	Glue ear, Uplifted earlobe, High, narrow palate, Protruding ear, Anisocoria, Short philtrum, High...	OMIM:613406
Primary Hyperoxaluria	Optic disc pallor, Choroidal neovascularization, Recurrent fractures, Abnormality of the dentitio...	ORPHA:416
Ciliary Dyskinesia, Primary, 18	Male infertility, Recurrent sinusitis, Immotile sperm	OMIM:614874
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Tonic pupil, Abnormal pupil morphology, Slow pupillary light response	ORPHA:90658
Ulbright-Hodes Syndrome	Abnormal penis morphology, Cryptorchidism, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Growth...	ORPHA:485421
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia	OMIM:613150
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumoni...	ORPHA:37042
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Calvarial hyperostosis	OMIM:612714
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul...	ORPHA:33001
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph...	ORPHA:206436
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Pancreas, Annular	Annular pancreas	OMIM:167750
Annular Pancreas	Annular pancreas	ORPHA:675
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Median cleft lip, Orofacial cleft, Atresia of the external auditory canal, Microphthalmia, Cyclop...	ORPHA:3186
Penile Agenesis	Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi...	ORPHA:49
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati...	OMIM:250220
Ciliary Dyskinesia, Primary, 14	Male infertility, Reduced sperm motility, Chronic sinusitis, Immotile sperm	OMIM:613807
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Protruding ear, Downturned corners of mouth, Short philtrum, Bifid uvu...	ORPHA:500150
Scalp-Ear-Nipple Syndrome	Cataract, Sparse axillary hair, Sparse pubic hair, Developmental cataract, Anisocoria, Fine hair,...	OMIM:181270
Alagille Syndrome 1	Duplicated collecting system, Elevated hepatic transaminase, Hepatocellular carcinoma, Multiple s...	OMIM:118450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract	OMIM:616538
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res...	ORPHA:183
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Mosaic Trisomy 20	Hypopigmented streaks, Depigmentation/hyperpigmentation of skin, Hearing impairment	ORPHA:1724
Congenital Erythropoietic Porphyria	Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski...	ORPHA:79277
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Renal cyst, Bile duct pro...	OMIM:261515
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Yellow Fever	Acute pancreatitis, Anuria, Renal insufficiency, Elevated circulating aspartate aminotransferase ...	ORPHA:99829
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Sparse h...	OMIM:305100
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal cyst, Micropenis	OMIM:257300
Maternal Uniparental Disomy Of Chromosome 2	Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Retinal degenera...	ORPHA:96179
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Renal dysplasia, Renal cyst	OMIM:617260
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Dental crowding, Persistence of primary teeth	OMIM:619769
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Asplenia, Abnormal p...	ORPHA:261552
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Trichinellosis	Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjunctivitis, Abnormal uvea m...	ORPHA:863
47,Xyy Syndrome	Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Impaired social interactions, Mac...	ORPHA:8
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative...	OMIM:618935
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Adenoma sebaceum, Renal cyst	OMIM:191100
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Eczema, Nephroblastoma, Supernumerary nipple	ORPHA:1001
Williams Syndrome	Osteopenia, Micrognathia, Hypoplastic toenails, Clinodactyly of the 5th finger, Microdontia, Spin...	ORPHA:904
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Hyperconvex nail, Wide distal femoral metaphysis, Postaxial hand...	OMIM:269150
Joubert Syndrome 1	Nephropathy, Hepatic fibrosis, Renal cyst	OMIM:213300
Trisomy 8P	Posteriorly rotated ears, Aplasia/Hypoplasia of the tragus, Low posterior hairline, Astigmatism, ...	ORPHA:264450
Beckwith-Wiedemann Syndrome	Hepatomegaly, Hepatoblastoma, Cryptorchidism, Pancreatic hyperplasia, Nephrolithiasis, Renal cort...	OMIM:130650
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Non-Functioning Pituitary Adenoma	Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypogonadism, Female hypo...	ORPHA:91349
Diarrhea 10, Protein-Losing Enteropathy Type	Coloboma, Low-set ears, Micrognathia	OMIM:618183
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Short long bone,...	OMIM:618188
Opsismodysplasia	Short metacarpal, Squared iliac bones, Hypoplastic pubic bone, Flat acetabular roof, Short foot, ...	OMIM:258480
Xeroderma Pigmentosum	Alopecia, Hypermelanotic macule, Sensorineural hearing impairment, Hypopigmented skin patches, Me...	ORPHA:910
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Epicanthus, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Splenomegaly, Posta...	OMIM:617088
Trisomy 20P	Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local...	ORPHA:261318
Mandibuloacral Dysplasia	Alopecia, Abnormally large globe, Abnormality of skin pigmentation, Sparse hair, Hypoplastic fing...	ORPHA:2457
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Cryptorchidism, Hip dislocation, Rickets, Genu valgum, Fin...	OMIM:309000
Cog1-Cdg	Osteopenia, Thin upper lip vermilion, Micrognathia, Coxa valga, Pierre-Robin sequence, Flat aceta...	ORPHA:263508
Menkes Disease	Bowing of the long bones, Osteomyelitis, Hypopigmentation of hair, Tarsal synostosis, Recurrent f...	ORPHA:565
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Increased bone mineral density, Splenomegaly, Osteolysis, Increased s...	ORPHA:77261
Hereditary Acrokeratotic Poikiloderma	Hypopigmented skin patches, Nail dystrophy, Irregular hyperpigmentation, Dystrophic fingernails, ...	ORPHA:2907
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Adenoma seba...	OMIM:613254
Mitochondrial Dna-Associated Leigh Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:255210
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Flexion contracture, Hypert...	OMIM:619479
Hydranencephaly	Stiff neck, Chorioretinal atrophy, Optic nerve hypoplasia, Infantile sensorineural hearing impair...	ORPHA:2177
Developmental Delay With Or Without Dysmorphic Facies And Autism	Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral ...	OMIM:618454
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Upper eyelid entropion, Abnormal hair whorl, Open mouth, Joint hypermobility	ORPHA:457284
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Calvarial hyperostosis, Pathologic fracture, Osteolysis, Increased susceptibility to fractures	ORPHA:52430
Holoprosencephaly-Postaxial Polydactyly Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of the premaxilla, Micrognathia, Orofacial cleft, C...	ORPHA:2166
Fraser Syndrome 2	Low anterior hairline, Cutaneous syndactyly, Hypoplasia of the thymus, Narrow mouth, Microphthalm...	OMIM:617666
Pancreatitis, Hereditary	Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency	OMIM:167800
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Retinal detachment	OMIM:601776
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology, Small nail	ORPHA:250999
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Asplenia, Flexion co...	ORPHA:261537
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ...	OMIM:619534
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary syst...	ORPHA:369837
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,...	ORPHA:99027
Pallister-Hall Syndrome	Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Accessory oral frenulum, Cl...	ORPHA:672
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Microretrognathia, Septo-optic dysplasia, Aganglionic megacolo...	ORPHA:59315
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Sparse scalp h...	OMIM:210720
Kindler Syndrome	Ridged nail, Spotty hyperpigmentation, Spotty hypopigmentation	OMIM:173650
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility, Chronic sinusitis	OMIM:619607
Pseudoxanthoma Elasticum, Forme Fruste	Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus	OMIM:177850
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia	ORPHA:261197
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Eczema, Unilateral renal agenesis, Anterior pituitary hypoplasia, Cryptorchidism, Br...	ORPHA:464306
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Asplenia, Flexion co...	ORPHA:2152
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Patchy hypo- and hyperpigmentation, Low po...	ORPHA:163956
Gm1 Gangliosidosis Type 1	Gingival overgrowth, Hepatosplenomegaly, Macroglossia, Flared iliac wing, Short long bone, Long p...	ORPHA:79255
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
Esophageal Atresia	Cleft lip, Abnormality of the ear, Cleft palate, Coloboma, Laryngotracheomalacia, Hearing impairment	ORPHA:1199
Viss Syndrome	Retinal detachment, Alopecia, Sparse scalp hair, Short stature, Increased circulating IgE level, ...	OMIM:619472
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M...	ORPHA:90349
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Cranial hyperostosis	ORPHA:457240
Ciliary Dyskinesia, Primary, 19	Male infertility, Recurrent sinusitis	OMIM:614935
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney	ORPHA:459061
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Microphthalmia, Submucous cle...	OMIM:157170
Isolated Arrhinia	Microphthalmia, Eyelid coloboma	ORPHA:1134
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm...	ORPHA:171929
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Gaucher Disease, Type I	Macular atrophy, Hyperpigmentation of the skin	OMIM:230800
Visual Impairment And Progressive Phthisis Bulbi	Phthisis bulbi	OMIM:618283
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, High anterior hairline	OMIM:615510
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Abnormality of the kidney, Cholangitis, Retroperitoneal fibrosis, Enlarged l...	ORPHA:449432
Leiomyomatosis, Diffuse, With Alport Syndrome	High-frequency sensorineural hearing impairment, Cataract, Sensorineural hearing impairment, Ante...	OMIM:308940
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Micrognathia, Flexion contracture, Hyperp...	OMIM:601803
Neu-Laxova Syndrome 1	Finger syndactyly, Ablepharon, Toe syndactyly, Pterygium, Rocker bottom foot, Micrognathia, Absen...	OMIM:256520
Isotretinoin-Like Syndrome	Micrognathia, Aplasia/Hypoplasia of the inner ear, Cleft palate, Upslanted palpebral fissure, Ano...	ORPHA:2306
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Oligoz...	ORPHA:91348
Diaphragmatic Hernia 4, With Cardiovascular Defects	Downslanted palpebral fissures, Optic nerve hypoplasia, Low-set ears, Micrognathia	OMIM:620025
Proximal Renal Tubular Acidosis	Cataract, Band keratopathy, Enamel hypomineralization, Reduced bone mineral density, Coloboma	ORPHA:47159
Charcot-Marie-Tooth Disease Type 4C	Anisocoria, Optic atrophy, Abnormal optic nerve morphology, Abnormal pupillary light reflex	ORPHA:99949
Down Syndrome	Brushfield spots	OMIM:190685
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Thin nail, Delayed eruption of primary teeth, Widely spaced teeth, Neutropenia, ...	OMIM:617799
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Recu...	OMIM:613610
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Orthostatic hypotension, Cataract, Developmental cataract, Pigmentary retinopa...	OMIM:606721
Wolfram Syndrome 2	Optic neuropathy, Sensorineural hearing impairment, Optic atrophy, Primary amenorrhea, Oligomenor...	OMIM:604928
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Elevated circulating creatine kinase concentr...	ORPHA:99826
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Macroglossia, Sensorineural hearing impairment, Optic nerve hypoplasia, Delayed proximal femoral ...	ORPHA:226307
Farber Disease	Corneal opacity, Macular degeneration, Abnormal conjunctiva morphology, Opacification of the corn...	ORPHA:333
Autosomal Recessive Spastic Paraplegia Type 11	Retinal degeneration	ORPHA:2822
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Epiretina...	ORPHA:637
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Congenital hip dislocation, Microg...	OMIM:606170
Noonan Syndrome 1	Male infertility, Epicanthus, Micrognathia, Cryptorchidism, High, narrow palate, Dental malocclus...	OMIM:163950
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Hepatomegaly, Hypospadias, Rena...	OMIM:270400
46,Xy Sex Reversal 1	Hypergonadotropic hypogonadism, Primary amenorrhea, Abnormality of the menstrual cycle	OMIM:400044
Wilson Disease	Kayser-Fleischer ring, Abnormality of the menstrual cycle	ORPHA:905
Say-Barber-Miller Syndrome	Abnormality of the hairline, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Optic atrophy...	ORPHA:3132
Histiocytoid Cardiomyopathy	Hepatomegaly, Renal cyst, Polycystic ovaries	ORPHA:137675
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma	ORPHA:538
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Hepatoblastoma, Cryptorchidism, Splenomegaly, Abnormal pancre...	ORPHA:116
Sotos Syndrome	No permanent dentition, Flexion contracture, Conductive hearing impairment, Chronic otitis media,...	ORPHA:821
Townes-Brocks Syndrome	Cataract, Blepharophimosis, External ear malformation, Wide mouth, Abnormal tragus morphology, Mi...	ORPHA:857
Partial Androgen Insensitivity Syndrome	Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunct...	ORPHA:90797
X-Linked Intellectual Disability, Snyder Type	Asymmetry of the ears, Sparse eyebrow, Synophrys, Patchy hypo- and hyperpigmentation, Cupped ear,...	ORPHA:3063
Systemic Sclerosis	Spotty hypopigmentation, Alopecia, Irregular hyperpigmentation, Nail bed telangiectasia	ORPHA:90291
Dyskeratosis Congenita, Digenic	Abnormality of skin pigmentation, Alopecia, Sparse eyelashes, Nail dystrophy	OMIM:620040
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Ectopia pupillae, Low anterior hairline	OMIM:618223
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Septo-optic dysplasia, Optic nerve hypoplasia, Abnormality of secondary sexual hair, ...	ORPHA:95494
46,Xy Partial Gonadal Dysgenesis	Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Sparse axillary hair, Decreased f...	ORPHA:251510
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ...	ORPHA:90793
Tetraamelia Syndrome 1	Cleft upper lip, Micrognathia, Asplenia, Cleft palate, Hypoplastic pelvis, Microphthalmia	OMIM:273395
Williams-Beuren Syndrome	Medial flaring of the eyebrow, Retinal arteriolar tortuosity, Blue irides, Premature graying of h...	OMIM:194050
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Trichiasis, Nail dystrophy, Anonychia, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:95455
Cerebrotendinous Xanthomatosis	Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct...	ORPHA:909
Autosomal Dominant Cutis Laxa	Bladder diverticulum, Bronchiectasis, Unilateral renal agenesis, Pyelonephritis	ORPHA:90348
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia	ORPHA:1393
Pagod Syndrome	Abnormality of the spleen, Multicystic kidney dysplasia, Abnormal testis morphology, Renal hypopl...	ORPHA:991
Mend Syndrome	Overfolded helix, Posteriorly rotated ears, Spotty hypopigmentation, Low-set ears	OMIM:300960
Gitelman Syndrome	Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Gout, T...	ORPHA:358
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Macular degeneration, Abnormal fundus morphology	ORPHA:94147
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria, Supernumerary nipple, Highly arched eyebrow	OMIM:618653
Cowden Syndrome	Multiple cafe-au-lait spots, Hypopigmented skin patches, Hearing impairment, Melanocytic nevus	ORPHA:201
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cho...	OMIM:124000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney	ORPHA:500095
Cerebrocostomandibular Syndrome	Horseshoe kidney, Renal cyst, Ectopic kidney	OMIM:117650
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Macular degeneration	ORPHA:247234
Sarcoidosis	Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:797
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess	OMIM:233710
Ciliary Dyskinesia, Primary, 1	Male infertility, Chronic sinusitis, Absent frontal sinuses	OMIM:244400
Tsh-Secreting Pituitary Adenoma	Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the m...	ORPHA:91347
Adams-Oliver Syndrome 1	Alopecia, Toe syndactyly, Supernumerary nipple, Cleft upper lip, Cleft palate, Small nail, Microp...	OMIM:100300
Klippel-Trénaunay Syndrome	Abnormality of the menstrual cycle	ORPHA:90308
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess	OMIM:233690
Jacobsen Syndrome	Multicystic kidney dysplasia, Eczema, Cryptorchidism, Annular pancreas, Hydronephrosis	ORPHA:2308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:615287
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Joint laxity, Epicanthus, Telecanthus, Posteriorly rotated ears, Tarsal synost...	OMIM:157800
Tetrasomy 9P	Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Myositis, Pericarditis, ...	ORPHA:3310
Hydrolethalus Syndrome 1	Accessory spleen, Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polyd...	OMIM:236680
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Craniosynostosis, Highly arched eyebrow, Joint stiffness, Cranial hyper...	ORPHA:309282
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Renal h...	ORPHA:93271
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Chronic otitis media, Hydronep...	ORPHA:1507
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe...	OMIM:608328
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid...	ORPHA:79078
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal localization of kidney, Micro...	ORPHA:1596
Hajdu-Cheney Syndrome	Hepatomegaly, Hypospadias, Splenomegaly, Multiple renal cysts, Periodontitis	ORPHA:955
45,X/46,Xy Mixed Gonadal Dysgenesis	Male infertility, Epicanthus, Streak ovary, Unilateral cryptorchidism, Micrognathia, Bilateral cr...	ORPHA:1772
Tick-Borne Encephalitis	Facial palsy, Vertigo, Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve morphol...	ORPHA:297
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Impaired platelet aggregation, Nail dystr...	ORPHA:2968
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess	OMIM:306400
Ablepharon Macrostomia Syndrome	Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Abnormality of skin pigmentat...	ORPHA:920
Superficial Siderosis	Anisocoria	ORPHA:247245
Interstitial Cystitis	Dyspareunia, Abnormality of the menstrual cycle	ORPHA:37202
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Supernumerary nipple, Cryptorchidism, Splenomegaly, Renal cyst, Duplic...	OMIM:312870
C Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia	ORPHA:1308
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Cranial hyperostosis	OMIM:612918
Pituitary Stalk Interruption Syndrome	Septo-optic dysplasia	ORPHA:95496
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Eczema, Ker...	OMIM:308205
Townes-Brocks Syndrome 1	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Cryptorchidism, R...	OMIM:107480
Neonatal Marfan Syndrome	Iridodonesis, Ectopia lentis, Low-set ears, Crumpled ear, Megalocornea	ORPHA:284979
Holoprosencephaly 1	Microphthalmia, Cyclopia	OMIM:236100
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto...	ORPHA:709
Vascular Ehlers-Danlos Syndrome	Keratoconus, Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Abnormal pupil m...	ORPHA:286
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387
Neurooculorenal Syndrome	Iris atrophy, Mixed hearing impairment, Highly arched eyebrow, Sensorineural hearing impairment	OMIM:620305
Multiple System Atrophy 1, Susceptibility To	Iris atrophy	OMIM:146500
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Abnormality of the menstrual cycle, Decreased nerve conduction velocity, Vertigo, De...	ORPHA:285
Malakoplakia	Orchitis, Abnormality of the menstrual cycle	ORPHA:556
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Proteinuria, Elevated circulating growth hormone con...	ORPHA:79318
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hypogonadotropic hypogonadism, Abnormality of the menstrual cycle, Decreased fertility, Testicula...	ORPHA:90794
African Trypanosomiasis	Papilledema, Abnormality of the menstrual cycle, Keratitis, Impotence, Conjunctivitis, Infertilit...	ORPHA:3385
Cystic Fibrosis	Male infertility, Chronic sinusitis	OMIM:219700
Alström Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Retinal pigment epithelial atrophy, Retinal dystrophy...	ORPHA:64
Melanoma, Cutaneous Malignant, Susceptibility To, 8		OMIM:614456

Histopathology

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

There is no histopathology data for Mitf

IMPC related publications

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

No publications found that use IMPC mice or data for Mitf.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Mitf^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Mitf^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Mitf^{tm41916(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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