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Gene: Fancf MGI:3689889

Gene Summary

Name:

Fanconi anemia, complementation group F

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
corneal opacity	Fancf^em1(IMPC)J	HOM	Early adult	5.22×10^-05
increased mean corpuscular hemoglobin	Fancf^em1(IMPC)J	HOM	Early adult	5.77×10^-05
increased mean corpuscular volume	Fancf^em1(IMPC)J	HOM	Early adult	9.18×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

3 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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Combined SHIRPA and Dysmorphology

Images

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Forepaw

8 Images

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Electroretinography 3

Fundus file

4 Images

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Electrocardiogram (ECG)

Waveform Image

15 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Fancf 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 Fancf (2 diseases)
Human diseases predicted to be associated with Fancf (672 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Fanconi Anemia		Abnormality of chromosome stability, Hypospadias, Myelodysplasia, Abnormal preputium morphology, ...	ORPHA:84
Fanconi Anemia, Complementation Group F		Cryptorchidism, Microphallus, Decreased response to growth hormone stimulation test, Chromosomal ...	OMIM:603467

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

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Premature Ovarian Failure 8	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Ovarian Dysgenesis 10	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Neoplasm, Eleva...	OMIM:300068
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ...	OMIM:273250
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Hereditary Breast And/Or Ovarian Cancer Syndrome	Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal...	ORPHA:145
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Ovarian Cancer	Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma	OMIM:167000
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Thyroid Cancer, Nonmedullary, 4	Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter	OMIM:616534
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl...	OMIM:229070
Breast-Ovarian Cancer, Familial, Susceptibility To, 2	Breast carcinoma, Ovarian neoplasm	OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1	Breast carcinoma, Ovarian neoplasm	OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3	Ovarian carcinoma, Breast carcinoma	OMIM:613399
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary...	OMIM:228300
Ovarian Dysgenesis 5	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:617690
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ...	OMIM:620311
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Schwannoma, Bladder carcinoma, Hodgkin lymphoma, Breast carcinoma, Ova...	ORPHA:157798
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Premature Ovarian Failure 17	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi...	OMIM:619146
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Ovari...	ORPHA:251510
Premature Ovarian Failure 15	Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l...	OMIM:618096
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Ovarian Dysgenesis 3	Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ...	OMIM:614324
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le...	ORPHA:99429
Gonadoblastoma	Gonadal dysgenesis with female appearance, male, Gonadal calcification, Dysgerminoma, Increased s...	ORPHA:206484
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Premature Ovarian Failure 2A	Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ...	OMIM:300511
Hypogonadism-Cataract Syndrome	Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti...	OMIM:240950
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Premature Ovarian Failure 16	Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat...	OMIM:618723
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level...	OMIM:619938
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Premature Ovarian Failure 14	Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ...	OMIM:618014
Ovarian Dysgenesis 8	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec...	OMIM:618187
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti...	OMIM:615842
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Ovarian Dysgenesis 4	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno...	OMIM:616185
Premature Ovarian Failure 11	Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea	OMIM:616946
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Schöpf-Schulz-Passarge Syndrome	Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma	ORPHA:50944
Subependymoma	Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N...	ORPHA:251639
Ependymoma	Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N...	ORPHA:251636
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Precocious Puberty, Central, 1	Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti...	OMIM:176400
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy...	ORPHA:261529
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr...	OMIM:180295
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Ovarian Fibromata	Ovarian fibroma	OMIM:166970
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l...	ORPHA:399808
Familial Multinodular Goiter	Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular...	ORPHA:276399
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen...	ORPHA:90796
Ovarian Dysgenesis 1	Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea	OMIM:233300
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Ovarian Fibrothecoma	Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration...	ORPHA:314478
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex...	OMIM:400045
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Premature Ovarian Failure 1	Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation	OMIM:311360
Frasier Syndrome	Gonadal dysgenesis, Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea	OMIM:136680
Acquired Hypertrichosis Lanuginosa	Neoplasm of the respiratory system, Neoplasm, Neoplasm of the breast, Ovarian neoplasm	ORPHA:2221
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas...	OMIM:611548
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ...	ORPHA:83469
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Muir-Torre Syndrome	Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben...	OMIM:158320
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro...	ORPHA:137608
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
Hypergonadotropic Hypogonadism-Cataract Syndrome	Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se...	ORPHA:2410
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat...	OMIM:614841
Lynch Syndrome 5	Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm	OMIM:614350
Leydig Cell Hypoplasia, Type I	Increased circulating gonadotropin level, Hypergonadotropic hypogonadism	OMIM:238320
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Morquio Syndrome C	Corneal opacity	OMIM:252300
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
46,Xy Sex Reversal 6	Hypospadias, Sex reversal, Dysgerminoma, Gonadal dysgenesis, Chordee, Gonadoblastoma, Clitoral hy...	OMIM:613762
Fanconi Anemia, Complementation Group S	Chromosome breakage, Ovarian carcinoma, Breast carcinoma, Ovarian neoplasm	OMIM:617883
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Bilateral Striopallidodentate Calcinosis	Corneal opacity, Thrombocytopenia	ORPHA:1980
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu...	ORPHA:347
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro...	OMIM:618841
Werner Syndrome	Secondary amenorrhea, Renal neoplasm, Acral lentiginous melanoma, Decreased fertility, Breast car...	ORPHA:902
Lynch Syndrome 4	Endometrial carcinoma, Ovarian neoplasm	OMIM:614337
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Gestational Choriocarcinoma	Choriocarcinoma, Trophoblastic tumor, Neoplasm, Metrorrhagia	ORPHA:99926
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ...	OMIM:615300
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Brain neoplasm, Metrorrhagia, Precocious puberty, Spinal cord tumor, Ov...	ORPHA:370348
Cowden Syndrome 1	Hyperthyroidism, Goiter, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcinoma, Hy...	OMIM:158350
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:250790
Galactosialidosis	Corneal opacity	ORPHA:351
Endometriosis, Susceptibility To, 1	Decreased fertility, Dysmenorrhea, Endometriosis	OMIM:131200
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,...	ORPHA:314473
Familial Colorectal Cancer Type X	Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla...	ORPHA:440437
46,Xx Gonadal Dysgenesis	Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease...	ORPHA:243
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In...	ORPHA:289548
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Hyperprolactinemia	Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration	OMIM:615555
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
46,Xy Sex Reversal 5	Sex reversal, Elevated circulating follicle stimulating hormone level	OMIM:613080
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Ectopic Aldosterone-Producing Tumor	Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Adrenocortical adenoma, ...	ORPHA:231632
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe...	OMIM:614840
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence...	ORPHA:163976
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov...	ORPHA:1359
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:609441
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Gonadoblastoma, Abnormality of the uterus, Nephroblast...	OMIM:194072
Lynch Syndrome	Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma...	ORPHA:144
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Lhermitte-Duclos Disease	Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm	ORPHA:65285
N Syndrome	Abnormality of chromosome stability, Hypospadias, Cryptorchidism, Neoplasm, Leukemia	OMIM:310465
Pituicytoma	Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr...	ORPHA:251623
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti...	ORPHA:3044
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Chromosome Xq27.3-Q28 Duplication Syndrome	Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster...	OMIM:300869
X-Linked Intellectual Disability, Cilliers Type	Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l...	ORPHA:163971
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D...	OMIM:619975
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati...	ORPHA:572333
Perrault Syndrome 1	Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea	OMIM:233400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary, Premature ovarian insufficiency	OMIM:609993
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia	OMIM:615234
49,Xxxyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:261534
Winchester Syndrome	Corneal opacity	OMIM:277950
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc...	OMIM:102200
Myotonic Dystrophy 2	Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,...	OMIM:602668
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula...	ORPHA:457083
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Xeroderma Pigmentosum, Complementation Group F	Seborrheic keratosis, Defective DNA repair after ultraviolet radiation damage, Keratoacanthoma, S...	OMIM:278760
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Gordon Holmes Syndrome	Hypogonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Absence of pubertal deve...	OMIM:212840
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa...	ORPHA:2232
Neuroendocrine Neoplasm Of Appendix	Primary hypercortisolism, Ovarian neoplasm, Adrenocorticotropic hormone excess, Intestinal carcin...	ORPHA:100079
Hereditary Leiomyomatosis And Renal Cell Cancer	Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar...	ORPHA:523
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Satoyoshi Syndrome	Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of...	ORPHA:3130
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia, Corneal arcus	OMIM:245900
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr...	ORPHA:91354
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula...	OMIM:614837
49,Xyyyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:99330
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c...	ORPHA:95619
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea	OMIM:184700
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Diabetes mellitus, Breast carcinoma, Melanoma, Ovarian carcinoma, Exoc...	ORPHA:1333
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia	ORPHA:2169
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma	ORPHA:1473
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Denys-Drash Syndrome	True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g...	OMIM:194080
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Full Schwannomatosis	Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa...	ORPHA:93921
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne...	ORPHA:137605
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Hereditary Leiomyomatosis And Renal Cell Cancer	Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Decreased fumarate hydratase activity, U...	OMIM:150800
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Polyembryoma	Abnormal circulating gonadotropin concentration, Neoplasm of head and neck, Isosexual precocious ...	ORPHA:180229
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor...	ORPHA:90301
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Xeroderma Pigmentosum, Complementation Group G	Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastoma, Hamartomatous ...	OMIM:109400
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis	OMIM:611590
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista...	ORPHA:280356
Myoectodermal Gonadal Dysgenesis Syndrome	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplastic labia major...	OMIM:618419
Prolactinoma	Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ...	ORPHA:2965
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Pituitary Gigantism	Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati...	ORPHA:99725
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Uterine leiomyoma, Papill...	ORPHA:480536
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti...	ORPHA:124
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Congenital Rubella Syndrome	Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Thrombocytopenia	ORPHA:290
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen...	OMIM:616030
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh...	ORPHA:3411
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi...	ORPHA:276152
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of pubertal...	OMIM:618078
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Astigmatism, Thrombocytopenia	ORPHA:261250
Ataxia-Telangiectasia	Abnormality of chromosome stability, Diabetes mellitus, Polycystic ovaries, Neoplasm, Type II dia...	ORPHA:100
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci...	OMIM:614897
Crouzon Syndrome	Dysgerminoma	OMIM:123500
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Cowden-Like syndrome	Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma	OMIM:612359
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility, Reduced circulating prolactin concentration	OMIM:264110
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Folate-dependent fragile site at Xq28, Decreased serum insulin-like growth factor...	ORPHA:85327
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Apert Syndrome	Ovarian neoplasm	ORPHA:87
Atypical Werner Syndrome	Fasting hyperinsulinemia, Neoplasm of the breast, Renal neoplasm, Premature ovarian insufficiency...	ORPHA:79474
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy...	ORPHA:300298
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Bardet-Biedl Syndrome	Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary, Hypogonadism	ORPHA:110
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E...	OMIM:617253
Fanconi Anemia, Complementation Group A	Male infertility, Hypergonadotropic hypogonadism, Cryptorchidism, Deficient excision of UV-induce...	OMIM:227650
Fanconi Anemia, Complementation Group E	Hypergonadotropic hypogonadism, Cryptorchidism, Deficient excision of UV-induced pyrimidine dimer...	OMIM:600901
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne...	ORPHA:1183
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea	OMIM:614858
Steinert Myotonic Dystrophy	Endometrial carcinoma, Brain neoplasm, Diabetes mellitus, Choroidal melanoma, Decreased response ...	ORPHA:273
Fish-Eye Disease	Splenomegaly, Corneal opacity	ORPHA:79292
Lcat Deficiency	Hemolytic anemia, Corneal opacity	ORPHA:650
Mucolipidosis Iv	Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou...	ORPHA:454840
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Developmental cataract	OMIM:618815
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ...	ORPHA:3464
Solitary Fibrous Tumor	Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Neoplasm of the lung, Neoplasm of the n...	ORPHA:2126
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno...	OMIM:131100
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperthyroidism, Primary hypercortisolism, Elevated circulating ...	ORPHA:562
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Pituitary Adenoma 2, Growth Hormone-Secreting	Pituitary adenoma, Elevated circulating growth hormone concentration	OMIM:300943
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt...	ORPHA:300373
Burkitt Lymphoma	Abnormality of the ovary, Neoplasm of the oral cavity	ORPHA:543
Gray Platelet Syndrome	Myelodysplasia, Abnormality of the menstrual cycle	ORPHA:721
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Primary congenital glaucoma,...	OMIM:105650
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Clitoral hypertrophy, Premature thelarc...	ORPHA:90795
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my...	OMIM:160980
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Teratoma, Ovarian	Ovarian teratoma	OMIM:166950
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:95613
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Cortisone Reductase Deficiency 1	Precocious puberty, Infertility, Oligomenorrhea	OMIM:604931
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Fanconi Anemia, Complementation Group C	Hypergonadotropic hypogonadism, Cryptorchidism, Deficient excision of UV-induced pyrimidine dimer...	OMIM:227645
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Hemochromatosis, Type 2A	Azoospermia, Hypogonadotropic hypogonadism, Infertility, Amenorrhea	OMIM:602390
Xeroderma Pigmentosum, Complementation Group E	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Defective DNA repair after u...	OMIM:278740
Müllerian Aplasia And Hyperandrogenism	Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina...	ORPHA:247768
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Retinal hamartoma, Neoplasm of the thymus, Visceral angi...	ORPHA:744
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Sialidosis Type 2	Splenomegaly, Corneal opacity	ORPHA:87876
Adenohypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95512
Panhypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95513
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Grfoma	Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym...	ORPHA:97261
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage, Basal cell carcinoma, Squamous cell carc...	OMIM:278720
Hurler-Scheie Syndrome	Splenomegaly, Corneal opacity	ORPHA:93476
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism	OMIM:152950
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity, Acute leukemia	ORPHA:281090
Ppoma	Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t...	ORPHA:97278
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
De Sanctis-Cacchione Syndrome	Bilateral cryptorchidism, Melanoma, Defective DNA repair after ultraviolet radiation damage, Gona...	OMIM:278800
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys...	ORPHA:79085
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Estrogen Resistance	Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame...	OMIM:615363
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le...	ORPHA:90791
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Leiomyoma, Uterine	Uterine leiomyoma	OMIM:150699
Alpha-Mannosidosis	Splenomegaly, Cataract, Corneal opacity	ORPHA:61
Harel-Yoon Syndrome	Corneal opacity, Developmental cataract	OMIM:617183
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium	OMIM:619339
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol...	OMIM:604367
Vipoma	Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g...	ORPHA:97282
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Astrocytoma, Thyroid adenoma	OMIM:617100
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Micropenis, Deficient excision ...	OMIM:227646
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa...	ORPHA:79644
Somatostatinoma	Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A...	ORPHA:97283
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci...	OMIM:300942
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve...	OMIM:614839
Monosomy 9Q22.3	Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f...	ORPHA:77301
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys...	ORPHA:435651
Scheie Syndrome	Corneal opacity	OMIM:607016
Alpha-Mannosidosis, Adult Form	Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:309288
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity	OMIM:613153
Multiple Endocrine Neoplasia Type 1	Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Peritoneal Cystic Mesothelioma	Menorrhagia, Dyspareunia, Neoplasm, Metrorrhagia	ORPHA:168816
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Xeroderma Pigmentosum, Complementation Group A	Melanoma, Squamous cell carcinoma of the skin, Defective DNA repair after ultraviolet radiation d...	OMIM:278700
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Sjogren-Larsson Syndrome	Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity	OMIM:166300
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys...	ORPHA:435660
Trichothiodystrophy	Cryptorchidism, Gonadal dysgenesis, Defective DNA repair after ultraviolet radiation damage, Squa...	ORPHA:33364
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Conjunctivitis, Corneal opacity	OMIM:602562
Neurotrophic Keratopathy	Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora...	ORPHA:137596
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ...	OMIM:158330
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ...	ORPHA:249
Glucagonoma	Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A...	ORPHA:97280
Sialidosis Type 1	Splenomegaly, Cataract, Corneal opacity	ORPHA:812
Microphthalmia, Isolated, With Coloboma 9	Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea	OMIM:615145
Brachyolmia Type 1, Toledo Type	Opacification of the corneal stroma	OMIM:271630
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity	ORPHA:2788
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma, Abnormal T cell morphology	OMIM:215250
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant...	ORPHA:90695
Sheehan Syndrome	Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p...	ORPHA:91355
Nmda Receptor Encephalitis	Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the...	ORPHA:217253
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity	ORPHA:496790
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Corneal arcus, Stomatocytosis, ...	OMIM:210250
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ...	ORPHA:913
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Meningioma	Decreased circulating cortisol level, Neoplasm of the anterior pituitary, Reduced circulating pro...	ORPHA:2495
Attenuated Familial Adenomatous Polyposis	Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma	ORPHA:220460
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Breast carcinoma, Hamartomatous polyposis, Ovarian cyst, Precocious pub...	OMIM:175200
Leopard Syndrome 1	Hypospadias, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Delayed puberty, Aplasia of the...	OMIM:151100
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Interstitial Cystitis	Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ...	ORPHA:37202
Wilson Disease	Splenomegaly, Thrombocytopenia, Anemia, Kayser-Fleischer ring	ORPHA:905
Xeroderma Pigmentosum, Complementation Group D	Melanoma, Defective DNA repair after ultraviolet radiation damage	OMIM:278730
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion...	ORPHA:1830
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Astigmatism, Corneal opacity, Thrombocytopenia	OMIM:301056
Scheie Syndrome	Splenomegaly, Corneal opacity	ORPHA:93474
Xfe Progeroid Syndrome	Premature ovarian insufficiency, Defective DNA repair after ultraviolet radiation damage	OMIM:610965
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Astigmatism	OMIM:619769
Microphthalmia With Brain And Digit Anomalies	Microcornea, Cataract, Iris coloboma, Sclerocornea	ORPHA:139471
Ring Chromosome 12 Syndrome	Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Hemangioma, Hypothyroidism, Breast hypo...	ORPHA:1439
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Ocular albinism, Anemia, Iris hypopigmentation	ORPHA:2719
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:93399
Farber Disease	Corneal opacity, Hepatosplenomegaly, Anemia, Abnormal conjunctiva morphology, Opacification of th...	ORPHA:333
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Congenital Sialidosis Type 2	Developmental cataract, Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:93400
Oculomaxillofacial Dysostosis	Corneal opacity	ORPHA:1794
Autosomal Recessive Cutis Laxa Type 2A	Abnormal cornea morphology, Corneal opacity	ORPHA:357058
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Multiple Sulfatase Deficiency	Splenomegaly, Cataract, Corneal opacity	ORPHA:585
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus...	OMIM:618820
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ...	ORPHA:65681
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly	OMIM:256540
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Tangier Disease	Thrombocytopenia, Corneal opacity, Anemia, Hepatosplenomegaly	ORPHA:31150
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor...	OMIM:256800
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi...	ORPHA:99880
Lowry-Maclean Syndrome	Developmental glaucoma, Megalocornea, Corneal opacity	ORPHA:2409
Zellweger Syndrome	Brushfield spots, Posterior embryotoxon, Corneal opacity, Cataract	ORPHA:912
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Anemia	ORPHA:160
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Oculoauricular Syndrome	Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th...	OMIM:612109
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,...	ORPHA:71505
Walker-Warburg Syndrome	Microcornea, Cataract, Corneal opacity, Iris coloboma	ORPHA:899
Coloboma, Ocular, Autosomal Dominant	Corneal opacity, Peters anomaly	OMIM:120200
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi...	ORPHA:143
Lead Poisoning	Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati...	ORPHA:330015
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation	ORPHA:284160
Al-Gazali Syndrome	Corneal opacity, Sclerocornea	OMIM:609465
Hurler-Scheie Syndrome	Splenomegaly, Corneal opacity	OMIM:607015
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph...	ORPHA:1018
Insulin-Like Growth Factor I Deficiency	Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration	OMIM:608747
Oculocerebrocutaneous Syndrome	Corneal opacity, Iris coloboma	ORPHA:1647
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Visceral angiomatosis, Lymphoma, Hamartomatous polyposis, Neoplas...	ORPHA:109
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Cataract, Corneal opacity	ORPHA:2399
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Eisenmenger Syndrome	Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia	ORPHA:97214
Wagro Syndrome	Aniridia, Cataract, Corneal opacity	OMIM:612469
Turner Syndrome Due To Structural X Chromosome Anomalies	Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c...	ORPHA:99413
Turner Syndrome	Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c...	ORPHA:881
Mosaic Monosomy X	Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c...	ORPHA:99228
Monosomy X	Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Increased c...	ORPHA:99226
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal T cell morphology, Anemia, Astigmatism, Opacification of the corneal strom...	OMIM:242900
Bronchial Neuroendocrine Tumor	Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca...	ORPHA:97287
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Developmental cataract	OMIM:616603
Stromme Syndrome	Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma	OMIM:243605
Gm1 Gangliosidosis	Splenomegaly, Corneal opacity, Hepatosplenomegaly	ORPHA:354
Cystinosis	Corneal opacity	ORPHA:213
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant...	ORPHA:95494
Mucopolysaccharidosis Type 7	Splenomegaly, Corneal opacity	ORPHA:584
Multiple Sulfatase Deficiency	Splenomegaly, Corneal opacity	OMIM:272200
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo...	ORPHA:314769
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Streak ovary, Hypospadias, Nephroblastoma, Ependymoma, Annular pancreas,...	ORPHA:798
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Micropenis, Hypoplasia of the ovary, Decreased testicular size	OMIM:619321
Pseudo-Torch Syndrome 1	Splenomegaly, Cataract, Thrombocytopenia, Opacification of the corneal stroma	OMIM:251290
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Familial Dysautonomia	Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity	ORPHA:1764
Alg9-Cdg	Hypoplasia of the ovary, Hypoplastic nipples, Bicornuate uterus	ORPHA:79328
Hurler Syndrome	Splenomegaly, Corneal opacity, Opacification of the corneal stroma, Hepatosplenomegaly	OMIM:607014
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Mucolipidosis Iii Gamma	Opacification of the corneal stroma	OMIM:252605
Tangier Disease	Splenomegaly, Opacification of the corneal stroma	OMIM:205400
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity	ORPHA:2323
Chromosome 6Pter-P24 Deletion Syndrome	Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy...	OMIM:612582
Klippel-Trénaunay Syndrome	Hemangioma, Abnormality of the menstrual cycle	ORPHA:90308
3Q29 Microduplication Syndrome	Aniridia, Cataract, Iris coloboma, Sclerocornea	ORPHA:251038
Mucopolysaccharidosis, Type Ivb	Corneal opacity, Opacification of the corneal stroma	OMIM:253010
Lathosterolosis	Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacification of the co...	ORPHA:46059
Bardet-Biedl Syndrome 1	Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Hypogonadism, Vagin...	OMIM:209900
Pelvis-Shoulder Dysplasia	Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo...	ORPHA:963
Fucosidosis	Corneal opacity	ORPHA:349
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microcornea, Ectopia pupillae, Cataract, Sclerocornea	OMIM:615877
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of ...	OMIM:175780
Schimmelpenning-Feuerstein-Mims Syndrome	Corneal opacity	OMIM:163200
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Malakoplakia	Orchitis, Prostate neoplasm, Abnormality of the menstrual cycle	ORPHA:556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea	OMIM:236670
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Sclerocornea	ORPHA:77298
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Mucopolysaccharidosis, Type Vii	Splenomegaly, Corneal opacity	OMIM:253220
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Anemia	ORPHA:79396
Mosaic Trisomy 9	Asplenia, Corneal opacity	ORPHA:99776
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Incontinentia Pigmenti	Keratitis, Cataract, Corneal opacity, Eosinophilia	ORPHA:464
Peroxisome Biogenesis Disorder 2A (Zellweger)	Brushfield spots, Cataract, Hypoplasia of the thymus, Opacification of the corneal stroma	OMIM:214110
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Astigmatism	ORPHA:309282
Mucoepithelial Dysplasia, Hereditary	Cataract, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas...	OMIM:158310
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anemia	ORPHA:324
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals	OMIM:210370
Focal Dermal Hypoplasia	Hypoplasia of the iris, Corneal opacity, Iris coloboma, Ectopia lentis	ORPHA:2092
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma	OMIM:601853
Mucopolysaccharidosis Type 4	Corneal opacity	ORPHA:582
Mucopolysaccharidosis Type 1	Splenomegaly, Corneal opacity	ORPHA:579
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Pachydermoperiostosis	Neoplasm of the lung, Elevated circulating growth hormone concentration, Neoplasm of the skin, Hy...	ORPHA:2796
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Opacification of the corneal stroma	OMIM:231005
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Corneal opacity	OMIM:601812
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Sclerocornea	OMIM:613001
Hurler Syndrome	Splenomegaly, Corneal opacity	ORPHA:93473
De Barsy Syndrome	Cataract, Corneal opacity	ORPHA:2962
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Lathosterolosis	Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He...	OMIM:607330
Mucopolysaccharidosis Type 3	Splenomegaly, Cataract, Corneal opacity, Opacification of the corneal stroma	ORPHA:581
Mosaic Trisomy 8	Corneal opacity	ORPHA:96061
Fryns Syndrome	Corneal opacity	ORPHA:2059
Mucopolysaccharidosis Type 6	Splenomegaly, Opacification of the corneal stroma	ORPHA:583
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Thrombocytopenia, Abnormal pupil morphology, Buphthalmos, Lentiglobus,...	ORPHA:534
Carpenter Syndrome 1	Microcornea, Opacification of the corneal stroma, Polysplenia	OMIM:201000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Corneal opacity, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemi...	ORPHA:2072
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Hyperopic astigmatism	OMIM:252600
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma	ORPHA:536471
Tbck-Related Intellectual Disability Syndrome	Corneal opacity	ORPHA:488632
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
3Mc Syndrome 3	Corneal opacity	OMIM:248340
Mosaic Variegated Aneuploidy Syndrome	Acute lymphoblastic leukemia, Cataract, Corneal opacity	ORPHA:1052
Kindler Epidermolysis Bullosa	Conjunctivitis, Anemia, Corneal opacity	ORPHA:2908
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Fanconi Anemia	Abnormality of chromosome stability, Hypospadias, Myelodysplasia, Abnormal preputium morphology, ...	ORPHA:84
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea	OMIM:614230
Wilson Disease	Hemolytic anemia, Splenomegaly, Anemia, Kayser-Fleischer ring, Thrombocytopenia	OMIM:277900
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Corneal crystals	OMIM:219900
Histiocytoid Cardiomyopathy	Megalocornea, Corneal opacity, Congenital aphakia	ORPHA:137675
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity	ORPHA:364577
Mucopolysaccharidosis, Type Vi	Splenomegaly, Corneal opacity	OMIM:253200
Gaucher Disease	Pancytopenia, Corneal opacity, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:355
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Astigmatism, Corneal opacity	ORPHA:464311
Moebius Syndrome	Corneal opacity	ORPHA:570
Dyrk1A-Related Intellectual Disability Syndrome	Astigmatism, Corneal opacity	ORPHA:464306
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Chime Syndrome	Corneal opacity, Acute leukemia	ORPHA:3474
Congenital Disorder Of Deglycosylation 1	Corneal ulceration, Corneal opacity	OMIM:615273
Neurofibromatosis Type 1	Cataract, Corneal opacity, Chronic myelogenous leukemia, Lisch nodules, Leukemia, Heterochromia i...	ORPHA:636
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Iris coloboma, Sclerocornea, Peters anomaly	OMIM:309801
Wiskott-Aldrich Syndrome	Abnormality of the menstrual cycle, Lymphoma, Chronic leukemia, Acute leukemia, Neoplasm, Hypopla...	ORPHA:906
Meckel Syndrome	Accessory spleen, Cataract, Sclerocornea, Asplenia, Microcornea, Aplasia/Hypoplasia of the iris	ORPHA:564
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy	ORPHA:495875
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Iris coloboma	ORPHA:2396
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea	OMIM:300952
Ablepharon Macrostomia Syndrome	Corneal erosion, Corneal opacity	ORPHA:920
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma	ORPHA:42775
Peroxisome Biogenesis Disorder 1A (Zellweger)	Brushfield spots, Cataract, Opacification of the corneal stroma	OMIM:214100
Larsen Syndrome	Corneal opacity	OMIM:150250
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Brushfield spots, Splenomegaly, Hepatosplenomegaly, Opacification of the corneal stroma	OMIM:614866
Microphthalmia With Linear Skin Defects Syndrome	Posterior embryotoxon, Corneal opacity, Sclerocornea	ORPHA:2556
Proboscis Lateralis	Microcornea, Cataract, Corneal opacity, Iris coloboma	ORPHA:141099
Mucopolysaccharidosis Type 2, Severe Form	Splenomegaly, Corneal opacity, Hepatosplenomegaly	ORPHA:217085
Mucopolysaccharidosis, Type Iva	Opacification of the corneal stroma	OMIM:253000
Mucopolysaccharidosis Type 2, Attenuated Form	Splenomegaly, Corneal opacity, Hepatosplenomegaly	ORPHA:217093
Oculoectodermal Syndrome	Microcornea, Limbal dermoid, Astigmatism, Opacification of the corneal stroma	OMIM:600268
Mucopolysaccharidosis Type 2	Splenomegaly, Corneal opacity	ORPHA:580
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Cataract, Opacification of the corneal stroma	OMIM:251300
Osteogenesis Imperfecta	Corneal opacity, Thrombocytopenia	ORPHA:666
Fanconi Anemia, Complementation Group F	Cryptorchidism, Microphallus, Decreased response to growth hormone stimulation test, Chromosomal ...	OMIM:603467
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis	ORPHA:2273
Peters Plus Syndrome	Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae	ORPHA:709
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Mosaic Trisomy 1	Opacification of the corneal stroma	ORPHA:1692
Microphthalmia, Syndromic 3	Cataract, Sclerocornea	OMIM:206900
Williams Syndrome	Flat cornea, Corneal opacity, Cataract, Blue irides, Aplasia/Hypoplasia of the iris, Megalocornea...	ORPHA:904
Smith-Lemli-Opitz Syndrome	Cataract, Iris coloboma, Sclerocornea	ORPHA:818
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity	OMIM:608670
Autosomal Dominant Cutis Laxa	Corneal opacity, Developmental cataract	ORPHA:90348
Wolf-Hirschhorn Syndrome	Megalocornea, Iris coloboma, Sclerocornea	ORPHA:280
Mucolipidosis Ii Alpha/Beta	Splenomegaly, Megalocornea, Opacification of the corneal stroma	OMIM:252500
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium	ORPHA:910
Cockayne Syndrome B	Splenomegaly, Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the c...	OMIM:133540
Stuve-Wiedemann Syndrome 1	Opacification of the corneal stroma	OMIM:601559
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary...	OMIM:263650
Fraser Syndrome 1	Corneal opacity	OMIM:219000
Digeorge Syndrome	Sclerocornea, Splenomegaly, Anemia, Hypoplasia of the thymus, Posterior embryotoxon, Thrombocytop...	OMIM:188400
Hutchinson-Gilford Progeria Syndrome	Corneal ulceration, Corneal opacity	ORPHA:740
Hereditary Acrokeratotic Poikiloderma	Opacification of the corneal stroma, Keratoconjunctivitis	ORPHA:2907
Neurocardiofaciodigital Syndrome	Cataract, Sclerocornea	OMIM:619869
Wiedemann-Rautenstrauch Syndrome	Cataract, Corneal opacity	ORPHA:3455
Cockayne Syndrome A	Splenomegaly, Cataract, Opacification of the corneal stroma	OMIM:216400
African Trypanosomiasis	Abnormality of the menstrual cycle, Abnormality of the endocrine system, Abnormality of renin-ang...	ORPHA:3385
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Corneal opacity, Opacification of the corneal stroma	OMIM:268300
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma	OMIM:253280
Fryns Syndrome	Opacification of the corneal stroma, Polysplenia	OMIM:229850
Yunis-Varon Syndrome	Cataract, Sclerocornea	ORPHA:3472
Pmm2-Cdg	Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Elevated circul...	ORPHA:79318
Hypermobile Ehlers-Danlos Syndrome	Cystocele, Decreased fertility, Abnormality of the menstrual cycle	ORPHA:285
Microphthalmia, Syndromic 6	Microcornea, Sclerocornea	OMIM:607932
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero...	OMIM:308205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Opacification of the corneal stroma	OMIM:615287
Yunis-Varon Syndrome	Cataract, Sclerocornea	OMIM:216340

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 Fancf

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 Fancf.

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

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MGI Allele	Allele Type	Produced
Fancf^em1(IMPC)J	Whole-gene deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Fancf MGI:3689889

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

X-ray

Combined SHIRPA and Dysmorphology

X-ray

X-ray

X-ray

X-ray

Electroretinography 3

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Fancf mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data