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Gene: Ap3b1 MGI:1333879

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

adaptor-related protein complex 3, beta 1 subunit

Synonyms:

recombination induced mutation 2, Hps2, AP-3, rim2, beta3A

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 Ap3b1 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 Ap3b1 (1 diseases)
Human diseases predicted to be associated with Ap3b1 (971 diseases)

The table below shows human diseases associated to Ap3b1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hermansky-Pudlak Syndrome 2		Horizontal nystagmus, Nystagmus, Absent platelet dense granules, Prolonged bleeding time, Reduced...	OMIM:608233

The table below shows human diseases predicted to be associated to Ap3b1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Dyschromatosis Universalis Hereditaria 1	Hyperpigmented/hypopigmented macules	OMIM:127500
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules	OMIM:615674
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Dyschromatosis Symmetrica Hereditaria	Hyperpigmented/hypopigmented macules	OMIM:127400
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 Of Fuldauer And Kuijpers	Hyperpigmentation of the skin	OMIM:145200
Hyperpigmentation, Familial Progressive, 1	Hyperpigmentation of the skin	OMIM:614233
Nasal Hyperpigmentation, Familial Transverse	Hyperpigmentation of the skin	OMIM:161530
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
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
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Nevus, Epidermal	Melanocytic nevus	OMIM:162900
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:618078
Dyschromatosis Universalis Hereditaria	Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait...	ORPHA:241
Diamond-Blackfan Anemia 17	Hyperpigmentation of the skin	OMIM:617409
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Book Syndrome	Premature graying of hair	OMIM:112300
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
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
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation	OMIM:620199
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Premature Ovarian Failure 13	Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea	OMIM:617442
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Premature Ovarian Failure 7	Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplasia of the uter...	OMIM:612964
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Hypopigmentation of hair, Partial albinism	ORPHA:90023
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation, Hearing impairment	OMIM:300719
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion	OMIM:209050
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus	ORPHA:2435
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc...	OMIM:273800
Dowling-Degos Disease 2	Hypomelanotic macule, Reticular hyperpigmentation	OMIM:615327
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ...	OMIM:612310
Glanzmann Thrombasthenia 2	Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ...	OMIM:619267
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Glucocorticoid Deficiency 3	Hyperpigmentation of the skin	OMIM:609197
Hermansky-Pudlak Syndrome 9	Ocular albinism, Abnormal platelet aggregation, Leukopenia, Hypopigmentation of the skin, Thrombo...	OMIM:614171
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Primary amenorrhea	OMIM:618117
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Congenital sensorineural hearing impairment, Blue irides, General...	OMIM:103500
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Hermansky-Pudlak Syndrome 3	Abnormal bleeding, Nystagmus, Horizontal nystagmus, Spontaneous, recurrent epistaxis, Congenital ...	OMIM:614072
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Premature Ovarian Failure 18	Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Hypoplasia of the ...	OMIM:619203
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Primary amenorrhea	OMIM:617690
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ...	ORPHA:849
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Premature ovarian insufficiency, Primary ameno...	OMIM:619665
Deafness, Congenital, With Total Albinism	Hearing impairment, Albinism	OMIM:220900
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy...	OMIM:227010
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Primary amenorrhea...	ORPHA:168563
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:614129
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation	OMIM:618462
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hypopigmented skin patches, Hyperpigmentation of the skin	ORPHA:2819
Bleeding Disorder, Platelet-Type, 11	Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,...	OMIM:614201
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, White forelock	ORPHA:2779
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Endometriosis, Susceptibility To, 1	Decreased fertility, Dysmenorrhea, Endometriosis	OMIM:131200
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Anonychia	OMIM:106750
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin...	OMIM:613265
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo...	OMIM:614841
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Leukocyte inclusion bodies, Prolonged bleeding time, Epistaxis, Myocardial inf...	OMIM:155100
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Irregular hyperpigmentation	ORPHA:1336
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:231200
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo...	OMIM:614837
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus	OMIM:601076
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Epistaxis, Albinism, Post-partum hemorrhage, Ocular albinism, Menorrhagi...	OMIM:614076
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ...	OMIM:615888
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ...	OMIM:131960
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ...	ORPHA:79397
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Hypertrichosis Lanuginosa Congenita	Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow, Hearing impairment	ORPHA:2222
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense gra...	OMIM:619172
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Prolonged bleeding time, Absent platelet dense granules, Albinism, Impai...	OMIM:614074
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Hermansky-Pudlak Syndrome 6	Prolonged bleeding time, Abnormal platelet granules, Albinism, Impaired ADP-induced platelet aggr...	OMIM:614075
Insulin-Resistance Syndrome Type A	Generalized hyperpigmentation, Generalized hirsutism	ORPHA:2297
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Satoyoshi Syndrome	Hypoplasia of the uterus, Mildly elevated creatine kinase, Amenorrhea	OMIM:600705
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Perrault Syndrome 4	Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplasia of the uter...	OMIM:615300
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Platelet Disorder, Undefined	Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Yemenite Deaf-Blind Hypopigmentation Syndrome	Severe sensorineural hearing impairment, Numerous pigmented freckles, Patchy hypo- and hyperpigme...	OMIM:601706
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Hypopigmentation of the skin, Neutropenia	OMIM:610798
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Microcoria, Anophthalmia, Iris coloboma	OMIM:616428
Bleeding Disorder, Platelet-Type, 8	Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg...	OMIM:609821
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig...	ORPHA:69125
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia	OMIM:608404
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Bullous Dystrophy, Hereditary Macular Type	Abnormality of the nail, Alopecia totalis, Hyperpigmentation of the skin	OMIM:302000
Slc35A1-Cdg	Abnormal bleeding, Respiratory distress, Prolonged bleeding time, Subcutaneous hemorrhage, Pneumo...	ORPHA:238459
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp...	ORPHA:89838
Foveal Hypoplasia-Presenile Cataract Syndrome	Generalized hyperpigmentation, Cataract	ORPHA:2253
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Pseudo-Von Willebrand Disease	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Premature...	ORPHA:895
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Sensorineural...	ORPHA:2885
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
46,Xy Sex Reversal 11	Abnormal internal genitalia, Primary amenorrhea, Vanishing testis, Aplasia of the uterus, Gonadal...	OMIM:273250
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Impaired platelet aggr...	OMIM:601399
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Joint he...	OMIM:277480
Seckel Syndrome 7	Hypoplasia of the uterus, Primary amenorrhea	OMIM:614851
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy...	ORPHA:79399
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Ectopic kidney, Aplasia/hypoplasia of the uterus	ORPHA:2578
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired thromboxane A2 agonist-induced platelet aggregation	OMIM:614009
Myh9-Related Disease	Elevated hepatic transaminase, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Renal i...	ORPHA:182050
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Ataxia-Pancytopenia Syndrome	Nystagmus, Pancytopenia, Abnormal macrophage morphology, Recurrent respiratory infections, Abnorm...	ORPHA:2585
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged bleeding time, Increased RBC distributi...	OMIM:187900
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Bilateral microphthalmos, Anophthalmia, Iris coloboma	OMIM:611638
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea	ORPHA:247768
Estrogen Resistance	Hypoplasia of the uterus, Primary amenorrhea, Polycystic ovaries	OMIM:615363
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Hermansky-Pudlak Syndrome 8	Nystagmus, Horizontal nystagmus, Myopia, Epistaxis, Excessive bleeding after a venipuncture, Mode...	OMIM:614077
Amed Syndrome, Digenic	Hypoplasia of the uterus	OMIM:619151
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist...	OMIM:139090
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Giant melanosomes in melanocytes, Adult onset sensorineural hearing impairment, Albinism	OMIM:300650
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen...	OMIM:154230
Amyloidosis, Primary Localized Cutaneous, 3	Generalized hyperpigmentation, Hypermelanotic macule	OMIM:617920
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Bleeding Disorder, Platelet-Type, 14	Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis	OMIM:614158
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Horseshoe kidney, Abnormality of the uterus, Vesicoureteral reflux,...	OMIM:617805
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin...	OMIM:277580
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Ureteral agenesis, Vaginal atresia, Renal hypoplasia	OMIM:617914
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Meckel Syndrome 12	Hypoplasia of the uterus, Ureteral hypoplasia, Vaginal atresia, Renal hypoplasia	OMIM:616258
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Splenom...	OMIM:153670
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Factor V Deficiency	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B...	OMIM:227400
Uv-Sensitive Syndrome 1	Freckling, Pigmentation anomalies of sun-exposed skin	OMIM:600630
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Primary amenorrhea, Aplasia of the vagina...	OMIM:158330
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks	OMIM:614323
Porphyria Cutanea Tarda, Type I	Hyperpigmentation of the skin, Hypertrichosis	OMIM:176090
Hydatidiform Mole	Menometrorrhagia, Enlarged uterus	ORPHA:99927
Gemignani Syndrome	Hypopigmented skin patches	ORPHA:2074
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Oocyte/Zygote/Embryo Maturation Arrest 10	Miscarriage, Female infertility	OMIM:619176
Epidermolysis Bullosa Acquisita	Abnormal hair morphology, Nail dystrophy, Hyperpigmentation of the skin	ORPHA:46487
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Frec...	OMIM:203300
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegal...	ORPHA:3226
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Autoimmune hemolytic anemia, Impaired neutrophil ch...	OMIM:619374
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse...	ORPHA:2251
Uv-Sensitive Syndrome 3	Freckling	OMIM:614640
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Essential Thrombocythemia	Prolonged bleeding time, Transient ischemic attack, Abnormality of thrombocytes, Myocardial infar...	ORPHA:3318
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Fair hair	OMIM:618808
Neurofibromatosis-Noonan Syndrome	Multiple cafe-au-lait spots, Prolonged bleeding time, Cryptorchidism	ORPHA:638
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas...	OMIM:266810
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Heparin-Induced Thrombocytopenia	Myocardial infarction, Pulmonary embolism, Autoimmune thrombocytopenia, Abnormal onset of bleedin...	ORPHA:3325
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Griscelli Syndrome Type 1	Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation	ORPHA:79476
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Hermansky-Pudlak Syndrome 2	Horizontal nystagmus, Nystagmus, Absent platelet dense granules, Prolonged bleeding time, Reduced...	OMIM:608233
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen...	ORPHA:79133
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Irregular menstruation, Hypoplasia of the ut...	OMIM:110100
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Dysmenorrhea, Decreased fe...	ORPHA:90796
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b...	ORPHA:79402
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh...	ORPHA:3411
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Corneal arcus, Stomatocytosis, ...	OMIM:210250
Bernard-Soulier Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Petechiae, Hema...	ORPHA:274
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili...	OMIM:605735
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Nystagmus, Subcutaneous hemorrhage, Proteinuria, Macrothrombocytopenia, Ami...	OMIM:603585
Caudal Duplication Anomaly	Ureteral duplication, Uterus didelphys	OMIM:607864
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Bilateral...	ORPHA:90797
Sea-Blue Histiocytosis	Hyperpigmentation of the skin, Splenomegaly, Sea-blue histiocytosis, Hypopigmentation of the skin...	ORPHA:158029
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Primary amenorrhea, Hypoplasia of the uterus	ORPHA:785
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Freckling, Pili torti	ORPHA:1573
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi...	ORPHA:99429
Xeroderma Pigmentosum Variant	Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin	ORPHA:90342
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Sparse scalp hair, Sparse eyebrow, Recurrent infections, Abnormality of skin pigmentation, Nail d...	OMIM:225050
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Microcytic anemia, Cong...	ORPHA:90308
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Menometrorrhagia, Prolonged bleeding a...	ORPHA:98879
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:609441
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati...	OMIM:104100
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
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Generalized hypopigmentation, Irregular hyperpigmentation, Abnormal eyebrow morphology, Generaliz...	ORPHA:1816
Renal Cysts And Diabetes Syndrome	Hypospadias, Proteinuria, Unilateral renal agenesis, Renal hypoplasia, Renal cyst, Stage 5 chroni...	OMIM:137920
Tubulinopathy-Associated Dysgyria	Hypoplasia of the pons, Abnormal brainstem morphology, Strabismus, Abnormal involuntary eye movem...	ORPHA:467166
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Horizontal supranuclear gaze pals...	OMIM:617542
Obesity And Hypopigmentation	Red hair	OMIM:620195
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
46,Xx Gonadal Dysgenesis	Streak ovary, Premature ovarian insufficiency, Decreased fertility, Secondary amenorrhea, Primary...	ORPHA:243
Methionine Malabsorption Syndrome	White hair, Blue irides	OMIM:250900
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of...	ORPHA:3109
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:897
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Ermine Phenotype	Hypopigmentation of hair, Sensorineural hearing impairment, Ocular albinism, Hypopigmented skin p...	ORPHA:999
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment...	ORPHA:158681
Combined Oxidative Phosphorylation Deficiency 51	Nystagmus, Neonatal respiratory distress, Respiratory failure, Focal T2 hyperintense thalamic les...	OMIM:619057
Darier Disease	Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of...	ORPHA:218
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Hypoplasia...	ORPHA:906
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Blue Rubber Bleb Nevus	Prolonged bleeding time, Intestinal bleeding, Microcytic anemia	ORPHA:1059
Microphthalmia, Syndromic 12	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:615524
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proximal renal tubular aci...	OMIM:146255
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility	OMIM:300604
Deafness-Vitiligo-Achalasia Syndrome	Sensorineural hearing impairment, Hypopigmented skin patches	ORPHA:3239
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Storage Pool Platelet Disease	Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Microphthalmia With Brain And Digit Anomalies	Cataract, Anophthalmia, Sclerocornea, Cryptorchidism, Microcornea, Microphthalmia, Iris coloboma	ORPHA:139471
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Hypoplastic toenails, Freckling	ORPHA:1547
Woodhouse-Sakati Syndrome	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, H...	OMIM:241080
Microphthalmia, Syndromic 9	Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, Bicornuate uterus, ...	OMIM:601186
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus	OMIM:258320
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair	ORPHA:1810
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Chédiak-Higashi Syndrome	Horizontal nystagmus, Vacuolated lymphocytes, Strabismus, Photophobia, Neutropenia, Abnormal natu...	ORPHA:167
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage, Abnormal visual fixation, Abnormal brainstem MRI signal intensity, Abnormal b...	ORPHA:88619
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus	OMIM:615866
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Deafness, Congenital, With Vitiligo And Achalasia	Hearing impairment, Vitiligo	OMIM:221350
Glucocorticoid Deficiency 2	Hyperpigmentation of the skin	OMIM:607398
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Pericarditis, Splenomegal...	ORPHA:809
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Japanese Encephalitis	Respiratory distress, Nystagmus, Neutrophilia, Abnormal substantia nigra morphology, Abnormal mid...	ORPHA:79139
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Abnormal dense granules, Sil...	OMIM:214500
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
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
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Nystagmus, Abnormal saccadic eye movements, Visual loss, Partial agenesis of the corpus callosum,...	ORPHA:300570
Spastic Paraplegia 23, Autosomal Recessive	Hyperpigmentation in sun-exposed areas, Multiple lentigines, Premature graying of body hair, Viti...	OMIM:270750
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ...	ORPHA:65681
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Nep...	OMIM:301000
Megalocornea	Iridodonesis, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris transillumination d...	OMIM:309300
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Acute Radiation Syndrome	Cataract, Hyperpigmentation of the skin, Granulocytopenia, Lymphopenia, Hypopigmentation of the s...	ORPHA:454831
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
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 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Waardenburg Syndrome, Type 3	Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ...	OMIM:148820
Adenohypophysitis	Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc...	ORPHA:95512
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Gaze-evoked nystagmus, Ophthalmoparesis, Focal T2 hyperintense thalamic le...	ORPHA:254881
Panhypophysitis	Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc...	ORPHA:95513
Congenital Muscular Dystrophy With Cerebellar Involvement	Myopia, Blindness, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Abnormal brainstem mo...	ORPHA:370959
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Congenital se...	ORPHA:894
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor...	ORPHA:464321
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Hypoplasia of the brainstem, Decreased thalamic volume	OMIM:613668
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Large central visual field defect, Tachyca...	ORPHA:79264
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Premature ovarian insufficiency, Hypoplasia of th...	ORPHA:3464
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Strabismus, Nephronophthisis, Oculomotor apr...	OMIM:619113
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi...	ORPHA:90793
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Abnormal bleeding, Respiratory distre...	ORPHA:79329
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Cach Syndrome	Blindness, T2 hypointense thalamus, Renal hypoplasia, Hepatosplenomegaly, Abnormal pons morpholog...	ORPHA:135
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy	OMIM:309801
3-Methylglutaconic Aciduria Type 4	Cataract, Thrombocytopenia, Iris hypopigmentation	ORPHA:67048
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Abnormal brainstem MRI signal intensity, Congestive heart failure...	ORPHA:444013
Phenylketonuria	Generalized hypopigmentation, Fair hair, Blue irides, Cataract	OMIM:261600
Microphthalmia, Syndromic 5	Cataract, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microcornea, Microphthalmia	OMIM:610125
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Joubert Syndrome 4	Nystagmus, Renal insufficiency, Abnormal renal medulla morphology, Stage 5 chronic kidney disease...	OMIM:609583
Joubert Syndrome 36	Strabismus, Molar tooth sign on MRI	OMIM:618763
Griscelli Syndrome Type 2	Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair...	ORPHA:79477
Myoectodermal Gonadal Dysgenesis Syndrome	Unilateral renal agenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Gonadal dysgenesis...	OMIM:618419
Combined Oxidative Phosphorylation Defect Type 7	Nystagmus, Abnormal brainstem MRI signal intensity, Ophthalmoplegia, Abnormal thalamic MRI signal...	ORPHA:254930
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Hypoplasia of the brainstem, Decreased thalamic volume	OMIM:619072
Leigh Syndrome	Complex organic aciduria, Neutropenia, Agenesis of corpus callosum, Abnormal brainstem MRI signal...	ORPHA:506
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Focal T2 hyperintense thalamic lesion, Slow saccadic eye movements	OMIM:613724
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia	OMIM:618660
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin...	OMIM:613266
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Hypopigmented skin patches,...	ORPHA:1807
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Autoimmune thrombocytopenia, Abnormal erythrocyte morphol...	ORPHA:324636
Coach Syndrome 2	Elevated hepatic transaminase, Strabismus, Hypertension, Apneic episodes in infancy, Oculomotor a...	OMIM:619111
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Female infertility...	ORPHA:572333
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Bullous Diffuse Cutaneous Mastocytosis	Profuse pigmented skin lesions	ORPHA:280785
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Agenesis of corpus callosum	ORPHA:166024
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Hypospadias, Supraventricular arrhythmia, Microcytic anemia, Micro...	ORPHA:2959
Joubert Syndrome 3	Central apnea, Nystagmus, Episodic tachypnea, Stage 5 chronic kidney disease, Lateral ventricle d...	OMIM:608629
Cockayne Syndrome Type 2	Anophthalmia, Hypermelanotic macule, Cryptorchidism, Developmental cataract, Conjunctivitis	ORPHA:90322
Large Congenital Melanocytic Nevus	Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,...	ORPHA:626
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera...	ORPHA:69087
Joubert Syndrome 13	Molar tooth sign on MRI	OMIM:614173
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Nystagmus, Macrocytic anemia, Splenomegaly, Cardiomyopathy, Focal T2 hyperintense thalamic lesion	OMIM:619046
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Cataract, Microphthalmia	OMIM:251270
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro...	ORPHA:2334
Joubert Syndrome 7	Central apnea, Nystagmus, Episodic tachypnea, Brainstem dysplasia, Tachypnea, Stage 5 chronic kid...	OMIM:611560
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme...	OMIM:611584
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Myopia, Cryptorchidism, Hypermetropia, Strabismus, Hemianopia, Abnormal thalamus morphology	ORPHA:404440
Meningioma	Bitemporal hemianopia, Decreased circulating cortisol level, Urinary incontinence, Reduced circul...	ORPHA:2495
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve...	ORPHA:70589
Trisomy 13	Cataract, Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the iris, Microphthalmia, Iris colo...	ORPHA:3378
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Nystagmus, Thalamic calcification	OMIM:618824
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Multiple ...	ORPHA:3214
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Griscelli Syndrome	Abnormality of neutrophils, Silver-gray hair, Splenomegaly, White hair, Hypopigmented skin patche...	ORPHA:381
Infantile Sialic Acid Storage Disease	Splenomegaly, Vacuolated lymphocytes, Fair hair, Hypopigmentation of the skin	OMIM:269920
Lichen Planus Pemphigoides	Hypopigmented streaks, Abnormality of the nail	ORPHA:254478
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp	OMIM:618373
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Cataract	OMIM:613801
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia ...	ORPHA:290
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Macs Syndrome	Prolonged bleeding time, Alopecia, Hypergonadotropic hypogonadism, Sparse eyebrow, Cryptorchidism...	OMIM:613075
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Impaired platelet aggregation	OMIM:618372
Anencephaly 2	Anophthalmia	OMIM:619452
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Thalamic calcification, Hypometric saccades	OMIM:618317
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation	ORPHA:745
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Microphthalmia, Generalized hypopigmentation	OMIM:617306
Familial Melanoma	Abnormal hair morphology, Freckling	ORPHA:618
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Joubert Syndrome 33	Oculomotor apraxia, Splenomegaly, Apnea, Molar tooth sign on MRI	OMIM:617767
Joubert Syndrome 9	Nystagmus, Apnea, Episodic tachypnea, Cerebral visual impairment, Stage 5 chronic kidney disease,...	OMIM:612285
Joubert Syndrome 31	Nystagmus, Oculomotor apraxia, Strabismus, Duane anomaly, Molar tooth sign on MRI	OMIM:617761
Relapsing Fever	Abnormal bleeding, Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Leukocyto...	ORPHA:91547
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Multiple lentigines, Vitiligo	ORPHA:101003
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation, Nail dystrophy	OMIM:613988
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Atelis Syndrome 1	Cataract, Anemia, Leukopenia, Irregular hyperpigmentation, Cafe-au-lait spot, Thrombocytopenia	OMIM:620184
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Hyperpigmentation ...	OMIM:301845
Oculoskeletodental Syndrome	Nephrocalcinosis, Dysplastic corpus callosum, Abnormal thalamus morphology	ORPHA:557003
Classic Phenylketonuria	Hypopigmentation of hair, Cataract, Hypopigmentation of the skin	ORPHA:79254
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelphys, Hydronephrosis,...	ORPHA:2237
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Sclerocornea, Cryptorchidism, Microphthalmia, Iris coloboma	ORPHA:77298
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cataract, Iris coloboma	OMIM:120433
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Nonprod...	ORPHA:79126
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti...	ORPHA:2302
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Hypopigmented skin patches	ORPHA:220402
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume	OMIM:618646
Microphthalmia, Isolated 5	Microphthalmia, Bone spicule pigmentation of the retina, Cataract	OMIM:611040
Cronkhite-Canada Syndrome	Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Hypoplastic toenails, Ab...	ORPHA:2930
Classic Mycosis Fungoides	Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail	ORPHA:2584
Walker-Warburg Syndrome	Cataract, Corneal opacity, Anophthalmia, Cryptorchidism, Microcornea, Microphthalmia, Iris coloboma	ORPHA:899
Anophthalmia Plus Syndrome	Anophthalmia, Iris coloboma	ORPHA:1104
Slc35A2-Cdg	Elevated hepatic transaminase, Abnormal midbrain morphology, Cerebral visual impairment, Elevated...	ORPHA:356961
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin	OMIM:309400
Renal Agenesis	Renal insufficiency, Absent vas deferens, Proteinuria, Unilateral renal agenesis, Ureteral agenes...	ORPHA:411709
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Nonproductive cough, Leukocytosis, Dyspnea, Hypereosinophilia, Wheezing, Asthma, Increa...	ORPHA:2902
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,...	ORPHA:168558
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Lichen Planopilaris	Alopecia, Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:525
Maternal Uniparental Disomy Of Chromosome X	Hypopigmentation of the skin, Low posterior hairline	ORPHA:261519
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Abnormality of neutrophils, White hair, Ocular albinism, Hypochromic anemia, Generalize...	ORPHA:2720
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,...	ORPHA:289548
Ataxia-Telangiectasia	Hypopigmentation of hair, Decreased circulating antibody level, Premature graying of hair, Multip...	ORPHA:100
Abcd Syndrome	White eyelashes, White eyebrow, Albinism, Neonatal death, Polycythemia	OMIM:600501
Joubert Syndrome 30	Apnea, Tachypnea, Reduced visual acuity, Molar tooth sign on MRI, Abnormality of eye movement	OMIM:617622
Joubert Syndrome 2	Central apnea, Nystagmus, Abnormal saccadic eye movements, Rotary nystagmus, Renal insufficiency,...	OMIM:608091
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Decreased circulating IgG2 level, Decreased circul...	ORPHA:1493
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Joubert Syndrome 35	Multicystic kidney dysplasia, Nyctalopia, Hydronephrosis, Renal fibrosis, Progressive visual loss...	OMIM:618161
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Anophthalmia, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia	OMIM:615877
Afibrinogenemia, Congenital	Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture...	OMIM:202400
Cockayne Syndrome Type 1	Cataract, Anophthalmia, Hypermelanotic macule, Cryptorchidism, Pigmentary retinopathy, Conjunctiv...	ORPHA:90321
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist...	OMIM:201750
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Hypopigmented skin patches	ORPHA:330064
Dyskeratosis Congenita, Autosomal Recessive 6	Abnormality of skin pigmentation, Alopecia, Sparse hair, Nail dystrophy	OMIM:616353
Chronic Bilirubin Encephalopathy	Central apnea, Hemolytic anemia, Visual gaze preference, Abnormal thalamic MRI signal intensity, ...	ORPHA:529808
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Blindness, Cerebral hemorrhage, Pulmonary embolism, Anemia, Purpura	OMIM:614514
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Atrichia, Nail dystrophy, Hy...	ORPHA:1867
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism, Recurrent respiratory infections	ORPHA:352723
Coasy Protein-Associated Neurodegeneration	Abnormal thalamus morphology	ORPHA:397725
Lelis Syndrome	Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Nail dystrophy, Sparse hair, Ab...	ORPHA:140936
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Partial albinism, Abnormality of thrombocytes, Ocular albinis...	ORPHA:79430
Acute Bilirubin Encephalopathy	Central apnea, Hemolytic anemia, Abnormal thalamic MRI signal intensity, Upgaze palsy, Prolonged ...	ORPHA:529799
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Proteinuria, Dyspnea, Leukocytosis, Increased...	ORPHA:90060
Joubert Syndrome 20	Oculomotor apraxia, Renal cyst, Molar tooth sign on MRI, Respiratory insufficiency	OMIM:614970
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Agenesis of corpus callosum, Hydronephrosis	OMIM:617127
Adult Krabbe Disease	Abnormal circulating enzyme concentration or activity, Abnormal medulla oblongata morphology, Abn...	ORPHA:206448
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Fulminant hepatitis, Photophobia, Leukopenia...	ORPHA:319213
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br...	OMIM:615294
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Vasculitis in the skin, Recurrent lower respiratory tract infections...	OMIM:620321
X-Linked Recessive Ocular Albinism	Freckling, Giant melanosomes in melanocytes, Ocular albinism, Iris hypopigmentation	ORPHA:54
Al-Raqad Syndrome	Hypopigmentation of the skin	OMIM:616459
Basal Ganglia Calcification, Idiopathic, 5	Thalamic calcification	OMIM:615483
Amoebiasis Due To Free-Living Amoebae	Blindness, Sinusitis, Abnormal medulla oblongata morphology, Pneumonia, Abnormal midbrain morphol...	ORPHA:68
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Thrombocytopenia...	ORPHA:3322
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Decreased ...	OMIM:610978
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	T2 hypointense thalamus, Progressive visual loss, Visual impairment	ORPHA:1947
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Hepatic failure, Int...	ORPHA:49566
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Dentinogenesis Imperfecta	Prolonged bleeding time, Bruising susceptibility	ORPHA:49042
Prune Belly Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Cryptorchidism, Abnormality of th...	ORPHA:2970
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus	OMIM:618193
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Cataract, Iris coloboma	OMIM:300337
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule, Sensorineural hearin...	ORPHA:53271
Noonan Syndrome	Abnormal bleeding, Abnormal hair quantity, Hypogonadotropic hypogonadism, Cryptorchidism, Abnorma...	ORPHA:648
Joubert Syndrome 18	Renal cyst, Horseshoe kidney, Molar tooth sign on MRI, Agenesis of corpus callosum, Abnormality o...	OMIM:614815
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Microphthalmia, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypopigmented skin patches	ORPHA:3143
Joubert Syndrome 28	Strabismus, Nystagmus, Oculomotor apraxia, Molar tooth sign on MRI	OMIM:617121
Aceruloplasminemia	Refractory anemia, Nystagmus, Abnormal circulating enzyme concentration or activity, Congestive h...	ORPHA:48818
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir...	OMIM:616726
Localized Epidermolysis Bullosa Simplex	Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin	ORPHA:79400
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormality of skin pigmentation	ORPHA:743
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperpigmentation of the skin	OMIM:613743
Premature Ovarian Failure 20	Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic...	OMIM:619938
Hemochromatosis, Type 4	Anemia, Cataract, Hyperpigmentation of the skin	OMIM:606069
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Abnormality of skin pigmentation, Hearing impairment	ORPHA:457260
Alexander Disease Type I	Abnormal thalamic MRI signal intensity	ORPHA:363717
Caudal Duplication	Abnormal penis morphology, Cryptorchidism, Ureteral duplication, Uterus didelphys	ORPHA:1756
Septopreoptic Holoprosencephaly	Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain morphology	ORPHA:280195
Tay-Sachs Disease	Abnormal circulating enzyme concentration or activity, Blindness, Abnormal thalamic MRI signal in...	ORPHA:845
Neuroferritinopathy	Impaired smooth pursuit, T2 hypointense thalamus, Abnormal thalamic MRI signal intensity, Upgaze ...	ORPHA:157846
Phakomatosis Pigmentovascularis	Generalized hyperpigmentation, Hypopigmented skin patches	ORPHA:2875
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit...	ORPHA:314478
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	External ophthalmoplegia, Abnormal mitochondrial shape, Abnormal thalamic MRI signal intensity, V...	ORPHA:485421
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona...	ORPHA:1164
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Farber Disease	Respiratory distress, Nystagmus, Elevated hepatic transaminase, Abnormal circulating enzyme conce...	ORPHA:333
Sandhoff Disease, Infantile Form	Mitral regurgitation, Reduced beta-hexosaminidase activity, Abnormal thalamic MRI signal intensit...	ORPHA:309155
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Self-Improving Dystrophic Epidermolysis Bullosa	Abnormality of skin pigmentation, Abnormality of the subungual region, Anonychia, Nail dystrophy	ORPHA:79411
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Agonad...	ORPHA:2232
Hydrolethalus	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:2189
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Abnormal bleeding, Sinusitis, Pneumonia, Impaired neutrophil chemotaxis, ...	ORPHA:2968
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Hypopigmented skin patches	ORPHA:1825
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia	OMIM:617466
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito...	OMIM:400045
Alg3-Cdg	Cataract, Hypopigmentation of the skin	ORPHA:79321
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron...	OMIM:271520
Meckel Syndrome 13	Oculomotor apraxia, Molar tooth sign on MRI, Polycystic kidney dysplasia	OMIM:617562
Joubert Syndrome 6	Blindness, Breathing dysregulation, Stage 5 chronic kidney disease, Hypoplasia of the brainstem, ...	OMIM:610688
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Joubert Syndrome 32	Oculomotor apraxia, Nystagmus, Hypertrophic cardiomyopathy, Molar tooth sign on MRI	OMIM:617757
Joubert Syndrome 16	Oculomotor apraxia, Molar tooth sign on MRI, Renal cyst, Nephronophthisis	OMIM:614465
Coach Syndrome 1	Elevated hepatic transaminase, Nystagmus, Portal hypertension, Unilateral renal agenesis, Splenom...	OMIM:216360
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation	OMIM:240200
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Vici Syndrome	Decreased circulating IgG level, Hypopigmentation of hair, Cataract, Albinism, Decreased circulat...	OMIM:242840
Acute Disseminated Encephalomyelitis	Respiratory failure requiring assisted ventilation, Viral hepatitis, Abnormal brainstem MRI signa...	ORPHA:83597
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Nystagmus, Decreased response to growth hormone stimulation test, Reduced ...	ORPHA:79443
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi...	ORPHA:83628
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Abnormal spleen morphology, Microphthalmia	ORPHA:2470
Joubert Syndrome 25	Oculomotor apraxia, Molar tooth sign on MRI	OMIM:616781
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Myopia, Recurrent respiratory infections, Renal insufficiency, Apn...	ORPHA:397715
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides	OMIM:614613
Blindness-Scoliosis-Arachnodactyly Syndrome	Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Joubert Syndrome 10	Molar tooth sign on MRI	OMIM:300804
Congenital Fibrinogen Deficiency	Abnormal bleeding, Decreased testicular size, Abnormality of the subungual region, Internal hemor...	ORPHA:335
Acquired Von Willebrand Syndrome	Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxi...	ORPHA:99147
Renal Hypodysplasia/Aplasia 1	Bicornuate uterus, Proteinuria, Vaginal atresia, Primary amenorrhea	OMIM:191830
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Recurrent respiratory infecti...	OMIM:618278
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79303
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Horseshoe kidney	ORPHA:3320
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Donnai-Barrow Syndrome	Bicornuate uterus, Proteinuria, Abnormality of the uterus	ORPHA:2143
Joubert Syndrome 15	Oculomotor apraxia, Micropenis, Molar tooth sign on MRI, Nephronophthisis	OMIM:614464
X-Linked Agammaglobulinemia	Hypopigmented skin patches, Anemia, Agammaglobulinemia, Conjunctivitis, Neutropenia, Thrombocytop...	ORPHA:47
Fibular Hemimelia	Anophthalmia, Abnormal anterior chamber morphology, Thrombocytopenia	ORPHA:93323
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Melanocytic nevus, Fine...	ORPHA:978
Epidermodysplasia Verruciformis	Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:302
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Pulmonary Arteriovenous Malformation	Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart mu...	ORPHA:2038
3P25.3 Microdeletion Syndrome	Abnormal thalamus morphology, Pulmonic stenosis	ORPHA:435638
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Renal...	OMIM:614527
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Joubert Syndrome 27	Oculomotor apraxia, Molar tooth sign on MRI, Esodeviation	OMIM:617120
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Sudden cardiac death...	ORPHA:99901
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Abnormal...	ORPHA:70588
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Respiratory tract infection...	ORPHA:60033
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Dowling-Degos Disease	Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin...	ORPHA:79145
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Right bundle branch block, Pulmonary fibrosis, Bronchiolitis, Increased circulating ...	ORPHA:254361
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Freckling, Conjunctivitis, Hypopigmentation of the skin	OMIM:278720
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Abnormality of skin pigmentation, Microcornea, Keratoc...	ORPHA:1806
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha...	OMIM:193500
Joubert Syndrome 37	Decreased testicular size, Cryptorchidism, Hydronephrosis, Oculomotor apraxia, Micropenis, Molar ...	OMIM:619185
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypopigmentation of the skin, Lens subluxation, Ectopia lentis	OMIM:236200
Bickerstaff Brainstem Encephalitis	Nystagmus, Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respirator...	ORPHA:79138
Neurofibromatosis, Familial Spinal	Freckling, Cafe-au-lait spot	OMIM:162210
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Reti...	ORPHA:50815
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Hypoplasia of the brainstem, Fusion of the left and right thalami, Molar tooth ...	OMIM:619306
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertensio...	ORPHA:64743
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hyperpigmentation of the skin, Splenomegaly, Corneal scarring, Conjunctivitis, ...	OMIM:263700
Joubert Syndrome 40	Oculomotor apraxia, Molar tooth sign on MRI	OMIM:619582
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert...	ORPHA:90794
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hyperpigmentation of the skin, Corneal opacity, Depigmentation/hyperpigmentation of skin, General...	ORPHA:79396
Joubert Syndrome 14	Nystagmus, Cerebral visual impairment, Renal cyst, Strabismus, Hypertension, Hypoplasia of the br...	OMIM:614424
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
Joubert Syndrome 22	Oculomotor apraxia, Molar tooth sign on MRI, Renal hypoplasia	OMIM:615665
Joubert Syndrome With Renal Defect	Nystagmus, Renal insufficiency, Molar tooth sign on MRI, Apnea, Strabismus, Oculomotor apraxia, N...	ORPHA:220497
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ...	ORPHA:70587
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin...	ORPHA:79127
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Cataract, Cryptorchidism, Microphthalmia, Iris coloboma	ORPHA:2250
Osteogenesis Imperfecta, Type Xvi	Prolonged bleeding time, Bruising susceptibility	OMIM:616229
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Joubert Syndrome With Ocular Defect	Nystagmus, Molar tooth sign on MRI, Apnea, Visual loss, Strabismus, Oculomotor apraxia, Agenesis ...	ORPHA:220493
Meckel Syndrome 14	Ambiguous genitalia, Polycystic kidney dysplasia, Aplasia of the uterus	OMIM:619879
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Nystagmus, Dilated cardiomyopathy, Abnormal thalamic MRI signal intensity, Upgaze palsy, Ophthalm...	ORPHA:70595
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Anemia, Pulmonary fibrosis, Emphysema, Lymphopenia, Thromboc...	OMIM:620365
Free Sialic Acid Storage Disease	Abnormality of skin pigmentation, Iris hypopigmentation	ORPHA:834
Joubert Syndrome 38	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ...	OMIM:619476
Trisomy 1Q	Cryptorchidism, Anophthalmia	ORPHA:261344
Sarcoidosis, Susceptibility To, 2	Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, ...	OMIM:612387
Curry-Jones Syndrome	Microphthalmia, Iris coloboma, Hypopigmented skin patches	ORPHA:1553
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Cryptorchidism...	OMIM:206900
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Low-...	OMIM:241200
Bloom Syndrome	Decreased circulating IgG level, Elevated hemoglobin A1c, Cryptorchidism, Spotty hypopigmentation...	OMIM:210900
Joubert Syndrome With Oculorenal Defect	Nystagmus, Blindness, Renal insufficiency, Apnea, Tachypnea, Strabismus, Molar tooth sign on MRI,...	ORPHA:2318
Cog8-Cdg	Elevated hepatic transaminase, Alternating esotropia, Spontaneous hematomas, Prolonged prothrombi...	ORPHA:95428
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e...	OMIM:267450
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hypoplasia of th...	ORPHA:709
Noonan Syndrome 9	Sparse eyebrow, Cryptorchidism, Prolonged prothrombin time, Curly hair	OMIM:616559
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab...	ORPHA:261529
Terminal Osseous Dysplasia	Abnormality of skin pigmentation, Low-set ears	OMIM:300244
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Tricuspid regurgitation, Crackles, Dyspnea, Leukocytosis, Asthma, Wheezing, Bronchiectasis, Atele...	OMIM:620233
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Premature graying of hair, Leukopen...	OMIM:613989
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Leukopenia, Increased circulating IgG le...	ORPHA:99827
Crouzon Syndrome	Iris coloboma, Conjunctivitis, Hypopigmented skin patches, Melanocytic nevus	ORPHA:207
Peters-Plus Syndrome	Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Cryptorchidism, Renal hypoplasia, Hy...	OMIM:261540
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Corneal dystrophy, Cryptorchidism, Aniridia, Megalocornea	ORPHA:1101
New-Onset Refractory Status Epilepticus	Abnormal thalamic MRI signal intensity	ORPHA:363558
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Posterior embryotoxon, Anophthalmia, Corneal opacity, Sclero...	ORPHA:2556
Joubert Syndrome 1	Central apnea, Abnormal saccadic eye movements, Impaired smooth pursuit, Episodic tachypnea, Brai...	OMIM:213300
Autoimmune Polyendocrinopathy Type 1	Cataract, Hypopigmented skin patches, Opacification of the corneal stroma	ORPHA:3453
Catastrophic Antiphospholipid Syndrome	Amaurosis fugax, Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary emb...	ORPHA:464343
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Epidermal Nevus Syndrome	Astigmatism, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:35125
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Arima Syndrome	Nystagmus, Blindness, Proteinuria, Brainstem dysplasia, Polyuria, Dyspnea, Tachypnea, Stage 5 chr...	OMIM:243910
Wolfram Syndrome 1	Sideroblastic anemia, Cataract, Megaloblastic anemia, Pigmentary retinopathy, Testicular atrophy,...	OMIM:222300
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut...	ORPHA:1572
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormality of skin pigmentation, Premature graying of hair, Abnormal hair morphology	ORPHA:1979
Angelman Syndrome	Fair hair, Hypopigmentation of the skin, Blue irides	OMIM:105830
Hereditary Cryohydrocytosis With Reduced Stomatin	Nystagmus, Spontaneous hemolytic crises, Jaundice, Decreased thalamic volume, Hepatosplenomegaly,...	ORPHA:168577
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Low posterior hairline, Nail dystrophy, ...	OMIM:300860
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cryptorchidism, Cataract	OMIM:601794
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98794
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Hand-Foot-Genital Syndrome	Hypospadias, Abnormality of the urethra, Bicornuate uterus, Abnormality of the uterus, Vesicouret...	ORPHA:2438
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time	ORPHA:1901
Microphthalmia, Syndromic 6	Nystagmus, Blindness, Myopia, Cryptorchidism, Renal hypoplasia, Aplasia of the optic tract, Anter...	OMIM:607932
Congenital Disorder Of Glycosylation, Type Iq	Abnormality of skin pigmentation, Low-set ears, Hypertrichosis	OMIM:612379
Meckel Syndrome	Accessory spleen, Cataract, Anophthalmia, Sclerocornea, Asplenia, Cryptorchidism, Microcornea, Ap...	ORPHA:564
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Nystagmus, Abnormal bleeding, Congestive heart failure, Recurrent pneumonia...	OMIM:616271
Cataract 47	Microcornea, Cataract	OMIM:612018
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:607131
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Micropenis, Renal hypoplasia, Aplasia of the uterus	OMIM:614083
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus	ORPHA:457284
Vacterl With Hydrocephalus	Microcornea, Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:3412
Porphyria Cutanea Tarda	Abnormal erythrocyte enzyme level, Hypopigmentation of the skin, Hyperpigmentation of the skin, C...	ORPHA:101330
Porphyria Variegata	Anemia, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:79473
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion, Decreased proportion of class-switched memory B cells, Decreased circu...	OMIM:614878
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Nystagmus, Pericarditis, Proteinuria, Olivopontocerebellar hypopla...	OMIM:212065
Squalene Synthase Deficiency	Macrotia, Posteriorly rotated ears, Abnormality of hair pigmentation, Low-set ears	OMIM:618156
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:614120
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Abnormality of retinal pigmentation, Anophthalmia, Cataract, Microphthalmia, Leukemia	ORPHA:2526
Intellectual Disability And Myopathy Syndrome	Cafe-au-lait spot, Spotty hypopigmentation	OMIM:619719
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Thrombocytopenia, Splenomegaly, Keratoconjunctiv...	ORPHA:79277
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Abnormal pituitary gland morphology, Abnormal hypothalamus morpholo...	ORPHA:314621
Joubert Syndrome 5	Central apnea, Nystagmus, Episodic tachypnea, Impaired renal concentrating ability, Reduced visua...	OMIM:610188
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Rhombencephalosynapsis	Abnormality of vision, Fusion of the left and right thalami	ORPHA:59315
Bile Acid Synthesis Defect, Congenital, 3	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrahepatic cholest...	OMIM:613812
Duplication Of Urethra	Bifid scrotum, Urethral stricture, Anuria, Hypospadias, Urinary incontinence, Septate vagina, Dis...	ORPHA:237
Hydranencephaly	Blindness, Thalamic edema, Abnormality of vision, Dysgenesis of the thalamus, Antenatal intracere...	ORPHA:2177
Wilson Disease	Acute hepatic failure, Hemolytic anemia, Hyperphosphaturia, Proteinuria, Elevated circulating asp...	OMIM:277900
Mosaic Trisomy 8	Corneal opacity, Cryptorchidism, Hypopigmented skin patches, Hypopigmentation of the skin, Decrea...	ORPHA:96061
Kasabach-Merritt Syndrome	Reticulocytosis, Purpura, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombin time, Micro...	ORPHA:2330
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase...	ORPHA:3202
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of skin pigmentation, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow	ORPHA:75496
Schimmelpenning-Feuerstein-Mims Syndrome	Hypopigmentation of the skin, Corneal opacity	OMIM:163200
Galloway-Mowat Syndrome 1	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Microphthalmia, Hypopigmen...	OMIM:251300
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Elevated hepatic transaminase, Portal hypertension, Congestive heart failur...	ORPHA:367
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Hematuria, Abnormal umbilical stump bleeding, Gingiva...	ORPHA:79
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Immotile cilia, Chron...	OMIM:244400
Rothmund-Thomson Syndrome Type 1	Juvenile cataract, Aplastic anemia, Cryptorchidism, Developmental cataract, Anemia, Neutropenia, ...	ORPHA:221008
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormality of skin pigmentation, Low-set ears	ORPHA:2180
Alpha-1-Antitrypsin Deficiency	Jaundice, Hepatitis, Nephrotic syndrome, Emphysema, Hepatic failure	ORPHA:60
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Gastrointestinal Stromal Tumor	Hyperpigmentation of the skin	OMIM:606764
Zygomycosis	Sinusitis, Rhinorrhea, Acute infectious pneumonia, Cough, Neutropenia, Nephritis, External ophtha...	ORPHA:73263
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Pontocerebellar Hypoplasia, Type 7	Synophrys, Hypopigmentation of the skin, Hirsutism	OMIM:614969
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Microphthalmia, Iris coloboma	OMIM:212550
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Hypopigmented skin patches, Generalized hirsutism, Nail dystrophy...	ORPHA:678
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronchogenic ...	ORPHA:2357
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Decreased circulating antibody level, Iron deficiency anemia, Budd-Chiari syn...	OMIM:226300
Harrod Syndrome	Cryptorchidism, Cataract, Hypopigmented skin patches	ORPHA:2115
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Synophrys, Hypopigmented skin patches, Aplastic/hypoplastic toenail	ORPHA:1295
Celiac Disease, Susceptibility To, 1	Alopecia, Macrocytic anemia, Iron deficiency anemia, Prolonged prothrombin time, Infertility, Thr...	OMIM:212750
Angelman Syndrome	Keratoconus, Astigmatism, Fair hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:72
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Alg12-Cdg	Elevated hepatic transaminase, Recurrent respiratory infections, Decreased serum insulin-like gro...	ORPHA:79324
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Elevated hepatic transaminase, Epistaxis, Cerebral hemorrhage, Prolonged proth...	OMIM:277450
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Hypoplasia of the pons, Strabismus, Cardiomyopathy, Respiratory fa...	ORPHA:88618
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Aplasia/Hypoplasia of the lungs, Abnormality of the diencephalon, Abnormal pleura morphology	ORPHA:2570
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen...	ORPHA:238468
Syndromic Diarrhea	Lymphopenia, Hypopigmentation of hair, Brittle hair, Thrombocytosis, Increased mean platelet volu...	ORPHA:84064
Cardiac-Urogenital Syndrome	Accessory spleen, Prolonged bleeding time, Tachycardia, Unilateral cryptorchidism, Cryptorchidism...	OMIM:618280
Aniridia 3	Aniridia, Cataract	OMIM:617142
Mismatch Repair Cancer Syndrome 1	Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin, Leukemia	OMIM:276300
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Cataract, Hypopigmented skin patches	ORPHA:2715
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Tachycardia, Elevate...	OMIM:614921
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Pancytopenia, Reduced natural killer cell activity, Splenomegaly, ...	OMIM:603553
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Rothmund-Thomson Syndrome	Juvenile cataract, Aplastic anemia, Reticular hyperpigmentation, Neutropenia, Leukemia, Hypopigme...	ORPHA:2909
Morning Glory Disc Anomaly	Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Unilateral cryptorchidism, Hypospadias, Bilateral cryptorchidism, Atelectas...	OMIM:300219
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Giant cell hepatitis, Elevated circulating aspartate aminotransfer...	OMIM:214950
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Decreased circulating IgG l...	ORPHA:125
Rothmund-Thomson Syndrome Type 2	Juvenile cataract, Aplastic anemia, Cryptorchidism, Developmental cataract, Anemia, Neutropenia, ...	ORPHA:221016
Holoprosencephaly	Anophthalmia, Cryptorchidism, Abnormality of the spleen, Microphthalmia, Iris coloboma	ORPHA:2162
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Abnormal bleeding, Prolonged prothrombin time, Epistaxis	OMIM:610842
Cholestasis-Lymphedema Syndrome	Abnormality of skin pigmentation	ORPHA:1414
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Pulmonary embolism, Intracranial hemorrhage, Cough, Neutrophilia, Raynaud p...	ORPHA:3260
Limb-Mammary Syndrome	Primary amenorrhea, Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Enuresis, Aplasia/Hypoplasia of the fallo...	ORPHA:96121
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M...	ORPHA:1969
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cryptorchidism, Cafe-au-lait spot, Hypopigmented skin patches, Decreased circulating IgA level	ORPHA:457485
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Isolated Biliary Atresia	Elevated hepatic transaminase, Dark yellow urine, Splenomegaly, Ophthalmoplegia, Jaundice, Elevat...	ORPHA:30391
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Hypoplasia of the pons, Cryptorchidism, Strabismus, Hypoplasia of t...	ORPHA:444072
Incontinentia Pigmenti	Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Abnormality of skin pigmentati...	OMIM:308300
Joubert Syndrome 8	Oculomotor apraxia, Prolonged neonatal jaundice, Molar tooth sign on MRI, Hyperventilation	OMIM:612291
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Abnormal brainstem MRI signal intensity, Atelectasis, Respiratory insufficiency,...	ORPHA:258
Hartnup Disease	Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2116
Oeis Complex	Hydroureter, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal...	OMIM:258040
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis...	OMIM:242700
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Eosinophilia, Atelectasis, Increased circulating IgE level, Cough	ORPHA:2314
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Acrofrontofacionasal Dysostosis	Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow	ORPHA:1784
Focal Dermal Hypoplasia	Linear hyperpigmentation, Anophthalmia, Ectopia lentis, Cryptorchidism, Reticular hyperpigmentati...	OMIM:305600
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated circulating follicle...	OMIM:614324
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Cardiomyopathy, Prolonged prothro...	OMIM:616483
Hepatoerythropoietic Porphyria	Hemolytic anemia, Splenomegaly, Keratoconjunctivitis, Erythroid hyperplasia, Corneal ulceration, ...	ORPHA:95159
Joubert Syndrome 17	Oculomotor apraxia, Molar tooth sign on MRI, Hyperventilation	OMIM:614615
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Ketonuria, Apnea, Cardiac arrest, Leukocytosis, Tachypnea, Dilated...	ORPHA:20
Cerebrooculonasal Syndrome	Optic nerve hypoplasia, Anophthalmia, Iris coloboma	OMIM:605627
Cholestasis, Progressive Familial Intrahepatic, 5	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	OMIM:617049
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Pul...	ORPHA:199241
Proboscis Lateralis	Anophthalmia, Cataract, Corneal opacity, Optic nerve hypoplasia, Microcornea, Microphthalmia, Iri...	ORPHA:141099
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduria, Dicarboxyli...	OMIM:613070
Intellectual Developmental Disorder, Autosomal Recessive 78	Hypopigmentation of the skin	OMIM:620237
Oculocerebrocutaneous Syndrome	Cryptorchidism, Iris coloboma, Corneal opacity, Hypopigmented skin patches	ORPHA:1647
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Jaundice, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Thrombo...	OMIM:267700
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased inhibin B leve...	ORPHA:98754
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigm...	ORPHA:163746
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Mixed hypo- and hyperpigme...	ORPHA:79456
Craniolenticulosutural Dysplasia	Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th...	ORPHA:50814
Orofaciodigital Syndrome Type 6	Nystagmus, Apnea, Episodic tachypnea, Bilateral cryptorchidism, Hypothalamic hamartoma, Molar too...	ORPHA:2754
Prader-Willi Syndrome	Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation...	OMIM:176270
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Acrofacial Dysostosis, Rodríguez Type	Abnormality of the uterus	ORPHA:1788
Autosomal Recessive Spastic Paraplegia Type 11	Nystagmus, Orthostatic hypotension, Abnormal substantia nigra morphology, Saccadic smooth pursuit...	ORPHA:2822
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased inhibin B leve...	ORPHA:98793
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypo...	ORPHA:398079
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Meckel Syndrome, Type 10	Molar tooth sign on MRI, Micropenis, Hypospadias, Renal cyst	OMIM:614175
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, Prolonged prothrom...	OMIM:618329
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased inhibin B leve...	ORPHA:177904
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Respiratory tract infe...	ORPHA:79128
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up...	ORPHA:51636
Abetalipoproteinemia	Abnormal bleeding, Reticulocytosis, Blindness, Elevated hepatic transaminase, Scotoma, Acanthocyt...	ORPHA:14
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased inhibin B leve...	ORPHA:177901
Orofaciodigital Syndrome Xvi	Oculomotor apraxia, Apnea, Molar tooth sign on MRI	OMIM:617563
Dyskeratosis Congenita	Cataract, Hypermelanotic macule, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Whit...	ORPHA:1775
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Elevated hepatic transaminase, Splenomegaly, Jaundice, Prolonged prothromb...	OMIM:618641
Leptin Receptor Deficiency	Abnormal hypothalamus morphology, Recurrent upper respiratory tract infections, Pituitary hypothy...	OMIM:614963
Yellow Fever	Abnormal bleeding, Shock, Renal insufficiency, Neutrophilia, Anuria, Elevated circulating asparta...	ORPHA:99829
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Congenital Ptosis	Cafe-au-lait spot, Piebaldism, Premature ovarian insufficiency, Long eyelashes	ORPHA:91411
Incontinentia Pigmenti	Cataract, Corneal opacity, Eosinophilia, Keratitis, Hypopigmented skin patches, Abnormality of sk...	ORPHA:464
Holoprosencephaly 7	Partial agenesis of the corpus callosum, Panhypopituitarism, Hypoplasia of the brainstem, Fusion ...	OMIM:610828
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Abnormal pupil mor...	ORPHA:233
Sialuria	Elevated hepatic transaminase, Prolonged prothrombin time, Upper airway obstruction, Hepatospleno...	ORPHA:3166
Craniopharyngioma	Bitemporal hemianopia, Abnormal visual field test, Enlarged pituitary gland, Myocardial infarctio...	ORPHA:54595
Trichohepatoenteric Syndrome 1	Thrombocytosis, Increased mean platelet volume, Splenomegaly, Decreased circulating antibody leve...	OMIM:222470
Dyskeratosis Congenita, Digenic	Abnormality of skin pigmentation, Alopecia, Sparse eyelashes, Nail dystrophy	OMIM:620040
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Tachycardia, Hypertensive crisis, Increased circulating lactate de...	ORPHA:94093
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Renal insuffic...	OMIM:276700
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Cryptorchidism, Hydronephrosis, Abnormality of the uterus, Abnormal fallopian tube morphology, Mi...	ORPHA:1655
Shwachman-Diamond Syndrome 2	Normocytic anemia, High myopia, Prolonged prothrombin time, Neutropenia, Thrombocytopenia	OMIM:617941
Ruvalcaba Syndrome	Hypopigmented skin patches, Generalized hirsutism	ORPHA:3121
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Tricuspid regurgitation, Cryptorchidism, Strabismus, Interhypothalamic adhesion, Micropenis, Agen...	OMIM:618929
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Abnormal circulating enzyme concentration or activity, Transient...	ORPHA:365
Mandibuloacral Dysplasia	Abnormality of skin pigmentation, Alopecia, Sparse hair, Hypoplastic fingernail	ORPHA:2457
Marburg Hemorrhagic Fever	Nonproductive cough, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bl...	ORPHA:99826
Exstrophy-Epispadias Complex	Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Cryptorchidis...	ORPHA:322
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Abnormality of the spleen, Anophthalmia	ORPHA:2538
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s...	ORPHA:177907
14Q22Q23 Microdeletion Syndrome	Cryptorchidism, Anophthalmia, Optic nerve aplasia	ORPHA:264200
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Nystagmus, Renal insufficiency, Ketonuria, Megaloblastic anemia, Pulmonary ...	ORPHA:79282
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cryptorchidism, Ocular albinism, Anemia, Iris hypopigmentation	ORPHA:2719
Pagod Syndrome	Multicystic kidney dysplasia, Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnormal...	ORPHA:991
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Hypoventilation, Central hypoventilation, Abnormal midbrain morpho...	ORPHA:293987
Koolen-De Vries Syndrome	Cryptorchidism, Hypopigmentation of hair, Abnormality of hair texture, Overfriendliness	ORPHA:96169
Tetragametic Chimerism	Blood group antigen abnormality, Abnormal testis morphology, Hypopigmented skin patches, Cryptorc...	ORPHA:199310
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis	ORPHA:896
Granulomatous Disease, Chronic, X-Linked	Splenomegaly, Atelectasis, Recurrent pneumonia, Impaired oxidative burst, Granulomatosis, Decreas...	OMIM:306400
Thrombocytopenia-Absent Radius Syndrome	Vesicoureteral reflux, Ureteral duplication, Aplasia of the uterus, Horseshoe kidney	OMIM:274000
Orofaciodigital Syndrome Vi	Nystagmus, Hypothalamic hamartoma, Molar tooth sign on MRI, Agenesis of corpus callosum, Esotropia	OMIM:277170
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Dyspnea, Bronchiectasis, Abnormal p...	OMIM:181000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduri...	ORPHA:71212
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Death in infancy, Intraventricular hemorrhage, Death in adolescence, Prolonged prothrombin time, ...	OMIM:619055
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Pulmonar...	OMIM:187300
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
Monosomy 13Q34	Metrorrhagia, Epistaxis, Hematochezia, Prolonged prothrombin time, Horizontal eyebrow	ORPHA:96168
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Membranoproliferative glomerulonephritis, Elevated circulating asp...	OMIM:619525
Oculoauricular Syndrome	Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th...	OMIM:612109
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stomatocytosis, In...	OMIM:185000
Prader-Willi Syndrome	Hypopigmentation of hair, Cryptorchidism, Decreased inhibin B level, Primary amenorrhea, Decrease...	ORPHA:739
Digeorge Syndrome	Renal insufficiency, Impaired T cell function, Decreased circulating parathyroid hormone level, A...	OMIM:188400
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Er...	ORPHA:447
Ulnar-Mammary Syndrome	Hypoplasia of penis, Cryptorchidism, Decreased fertility, Renal hypoplasia, Abnormality of the ut...	ORPHA:3138
Microphthalmia, Syndromic 2	Anophthalmia, Cryptorchidism, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:300166
Holoprosencephaly 9	Microphthalmia, Cryptorchidism, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Oculocerebrorenal Syndrome Of Lowe	Oligosacchariduria, Strabismus, Nephrocalcinosis, Aminoaciduria, Cryptorchidism, Atelectasis, Res...	ORPHA:534
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Female infertility, Nu...	ORPHA:99413
Mosaic Monosomy X	Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Female infertility, Nu...	ORPHA:99228
Monosomy X	Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Female infertility, Nu...	ORPHA:99226
Turner Syndrome	Alopecia, Premature ovarian insufficiency, Abnormal fingernail morphology, Female infertility, Nu...	ORPHA:881
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Hypermelanotic macule, Keratitis, Cryptorchidism, Hypopigm...	ORPHA:910
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Abnormal bleeding, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Ketonuria, Increas...	ORPHA:247598
Mosaic Trisomy 9	Hypoplasia of penis, Cryptorchidism, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Abno...	ORPHA:99776
Joubert Syndrome 21	Splenomegaly, Anophthalmia	OMIM:615636
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Cataract, Cryptorchidism, Hypopigmented skin patches,...	ORPHA:84
Chromomycosis	Keratitis, Keratoconjunctivitis sicca, Hypopigmented skin patches	ORPHA:182
Cohen Syndrome	Abnormality of retinal pigmentation, Thick hair, Abnormal eyelash morphology, Sensorineural heari...	ORPHA:193
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair, Agammaglobulinemia, Lymphopenia, Anemia	ORPHA:935
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st...	OMIM:615067
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patches	ORPHA:2067
Classical Ehlers-Danlos Syndrome	Prolonged bleeding time, Orthostatic hypotension, Arterial rupture, Bladder diverticulum, Mitral ...	ORPHA:287
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Abnormal urinary color, Dyspnea, A...	ORPHA:538
Short Stature With Microcephaly And Distinctive Facies	Spotty hyperpigmentation, Anisopoikilocytosis, Spotty hypopigmentation, Anemia	OMIM:615789
Localized Scleroderma	Abnormal skin adnexa morphology, Hypopigmented skin patches, Patchy alopecia, Hyperpigmentation o...	ORPHA:90289
Hennekam-Beemer Syndrome	Generalized hyperpigmentation, Abnormality of skin pigmentation, Microtia, Conductive hearing imp...	ORPHA:2135
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Myopic astigmatism, Hypopigmentation of the skin, Hepatosplenomegaly	OMIM:301066
Familial Isolated Restrictive Cardiomyopathy	Orthopnea, Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Suprav...	ORPHA:75249
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Hypertensive crisis, Hypospadias, Abnormality of thrombocytes, Impai...	ORPHA:567
Fraser Syndrome 1	Cryptorchidism, Anophthalmia, Corneal opacity, Bilateral microphthalmos	OMIM:219000
Mucolipidosis Ii Alpha/Beta	Splenomegaly, Megalocornea, Hypopigmentation of the skin, Opacification of the corneal stroma	OMIM:252500
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, Cr...	ORPHA:636
Spondyloenchondrodysplasia With Immune Dysregulation	Hypermelanotic macule, Autoimmune thrombocytopenia, Hypopigmented skin patches on arms, T lymphoc...	OMIM:607944
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Elevated hepatic transaminase, Acute kidne...	ORPHA:90062
Brittle Cornea Syndrome	Bruising susceptibility, Abnormality of hair pigmentation	ORPHA:90354
Joubert Syndrome 39	Oculomotor apraxia, Polycystic kidney dysplasia, Molar tooth sign on MRI, Hypopnea	OMIM:619562
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu...	ORPHA:1329
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Cryptorchidism, Renal hypoplasia, Renal cyst, Respiratory insufficiency, Pulmonary hypoplasia, Mo...	OMIM:616300
Sarcoidosis	Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Nephrocal...	ORPHA:797
Primary Sclerosing Cholangitis	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Abnormal eosinophil mo...	ORPHA:171
Charge Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia, Iris coloboma	ORPHA:138
Degcags Syndrome	Hypopigmentation of hair, Pancytopenia, Congenital hypoplastic anemia, Cryptorchidism, Hepatosple...	OMIM:619488
Ablepharon Macrostomia Syndrome	Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Abnormality of skin pigmentat...	ORPHA:920
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Neonatal respiratory distress, Hypospadias, Lateral ventricle dilatation, Small pituitary gland, ...	OMIM:619479
Eec Syndrome	Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Nail dystrophy, Generalized...	ORPHA:1896
Branchiooculofacial Syndrome	Cataract, Anophthalmia, Cryptorchidism, Premature graying of hair, White forelock, Microphthalmia...	OMIM:113620
Lathosterolosis	Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology,...	ORPHA:46059
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
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasi...	OMIM:613177
Meckel Syndrome, Type 1	Accessory spleen, Rotary nystagmus, Asplenia, Splenomegaly, Cryptorchidism, Abnormality of the ur...	OMIM:249000
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Multiple cafe-au-lait spots, Hypopigmented skin patches, Anemia	ORPHA:2637
Hypermethioninemia Due To Adenosine Kinase Deficiency	Prolonged prothrombin time, Elevated circulating alanine aminotransferase concentration, Pulmonic...	OMIM:614300
Koolen-De Vries Syndrome Due To A Point Mutation	Testicular neoplasm, Cryptorchidism, Developmental cataract, Cafe-au-lait spot, Fair hair, Hypopi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Testicular neoplasm, Cryptorchidism, Developmental cataract, Cafe-au-lait spot, Fair hair, Hypopi...	ORPHA:363958
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Aplasia of the uterus...	OMIM:135900
Cystinosis, Nephropathic	Hypopigmentation of hair, Splenomegaly, Retinal pigment epithelial mottling, Pigmentary retinopat...	OMIM:219800
Meckel Syndrome, Type 4	Molar tooth sign on MRI, Renal cyst	OMIM:611134
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
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost...	ORPHA:95430
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Myopia, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Re...	ORPHA:536467
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Hyperpigmentation of the skin, Symblepharon, Keratitis, Corneal erosion, Keratoconjunctivitis sic...	ORPHA:95455
Charge Syndrome	Anophthalmia, Cataract, Cryptorchidism, Unilateral microphthalmos, Microphthalmia, Lymphopenia, I...	OMIM:214800
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Cataract, Melanocytic nevus, Abnormality of skin pigmentation, Juvenile cataract, Hypopigmentatio...	OMIM:619475
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Posteriorly rotated ears, Widow's peak, Coarse hair, Overfold...	ORPHA:1974
Pallister-Hall Syndrome	Small scrotum, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Precocious puberty, Crypto...	ORPHA:672
Short-Rib Thoracic Dysplasia 12	Splenomegaly, Atelectasis, Renal hypoplasia, Respiratory insufficiency, Pulmonary hypoplasia, Cys...	OMIM:269860
Wolf-Hirschhorn Syndrome	Precocious puberty, Cryptorchidism, Hypospadias, Aplasia of the uterus	OMIM:194190
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Portal hypertension, Splenomegaly, Jaundice, Prolonged prothrombin...	ORPHA:309854
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hypoplasia of the brainstem, Pulmonary hypoplasia, Polycystic kidney dysplasia, Molar tooth sign ...	OMIM:616546
Cerebellofaciodental Syndrome	Strabismus, Cryptorchidism, Hypoplasia of the midbrain, Hypoplasia of the pons	OMIM:616202
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus	OMIM:276820
Adrenomyeloneuropathy	Abnormality of skin pigmentation, Lip hyperpigmentation, Frontal balding, Fine hair	ORPHA:139399
Familial Tumoral Calcinosis	Splenomegaly, Hypopigmented skin patches	ORPHA:53715
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	White eyelashes, White eyebrow, Cryptorchidism, Hypopigmented skin patches, Hepatosplenomegaly, W...	OMIM:609136
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal bleeding, Abnormal circulating enzyme concentration or activity, Proteinuria, Chronic ne...	ORPHA:79259
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury...	ORPHA:228116
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia, Hypopigmented skin patches	ORPHA:183
Microphthalmia With Limb Anomalies	Microphthalmia, Cryptorchidism, True anophthalmia	ORPHA:1106
Relapsing Polychondritis	Pericarditis, Renal insufficiency, Proteinuria, Dyspnea, Myocarditis, Atelectasis, Hepatitis, Lar...	ORPHA:728
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency, Abnormality of the diencephalon	ORPHA:2165
Fanconi Anemia, Complementation Group A	Abnormality of skin pigmentation, Cafe-au-lait spot, Hearing impairment	OMIM:227650
Fraser Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:2052
Infantile Krabbe Disease	Hypopigmented skin patches	ORPHA:206436
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Pulmonary embolism, Respiratory tract infection, Dyspnea, Minimal change glomerulonephritis, Chro...	ORPHA:567546
Mend Syndrome	Cataract, Cryptorchidism, Spotty hypopigmentation, Macular hypoplasia, Anterior polar cataract	OMIM:300960
Alkaptonuria	Abnormality of skin pigmentation, Irregular hyperpigmentation, Abnormality of the nail	ORPHA:56
Hereditary Acrokeratotic Poikiloderma	Hypopigmented skin patches, Nail dystrophy, Irregular hyperpigmentation, Dystrophic fingernails, ...	ORPHA:2907
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Recurrent respiratory infections, Splenomegaly, Generalized aminoa...	ORPHA:404454
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic nerve hypoplasia, Generalized hypopigmentation, Leukocytosis, Decreased testicular size	OMIM:619321
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased p...	ORPHA:70591
Williams Syndrome	Hypoplasia of penis, Myocardial infarction, Nystagmus-induced head nodding, Strabismus, Nephrocal...	ORPHA:904
Menkes Disease	Gastrointestinal hemorrhage, Hypopigmentation of hair, Intracranial hemorrhage, Spontaneous hemat...	ORPHA:565
Mend Syndrome	Microphthalmia, Cryptorchidism, Cataract, Spotty hypopigmentation	ORPHA:401973
Mosaic Trisomy 20	Cryptorchidism, Hypopigmented streaks, Depigmentation/hyperpigmentation of skin	ORPHA:1724
Kindler Syndrome	Spotty hyperpigmentation, Corneal erosion, Spotty hypopigmentation, Symblepharon	OMIM:173650
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Prolonged prothrombin time, Elevated circulating alanine aminotransferase concentration, Elevated...	OMIM:311250
Cowden Syndrome	Cataract, Hypopigmented skin patches, Melanocytic nevus, Multiple cafe-au-lait spots, Conjunctiva...	ORPHA:201
Pitt-Hopkins Syndrome	Cryptorchidism, Astigmatism, Hypopigmented skin patches	ORPHA:2896
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Patchy hypo- and hyperpigmentation, Low po...	ORPHA:163956
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Sparse scalp h...	OMIM:210720
Orofaciodigital Syndrome Type 14	Bilateral cryptorchidism, Epispadias, Partial agenesis of the corpus callosum, Molar tooth sign o...	ORPHA:434179
Ring Chromosome 13 Syndrome	Alopecia, Posteriorly rotated ears, Macrotia, Abnormality of skin pigmentation, Cafe-au-lait spot	ORPHA:96176
Ring Chromosome 7 Syndrome	Highly arched eyebrow, Prominent crus of helix, Low anterior hairline, Abnormality of skin pigmen...	ORPHA:1449
Microphthalmia, Syndromic 1	Anophthalmia, Cryptorchidism, Microcornea, Ciliary body coloboma, Microphthalmia, Iris coloboma	OMIM:309800
Systemic Sclerosis	Alopecia, Irregular hyperpigmentation, Spotty hypopigmentation, Nail bed telangiectasia	ORPHA:90291
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Renal insufficiency, Uret...	ORPHA:857
Atypical Werner Syndrome	Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Abnormal hair morphology, ...	ORPHA:79474
Sotos Syndrome	Cataract, Cryptorchidism, Acute lymphoblastic leukemia, Hydrocele testis, Astigmatism, Hypopigmen...	ORPHA:821
Hydrolethalus Syndrome 1	Abnormal vagina morphology, Hypospadias, Hydronephrosis, Bifid uterus	OMIM:236680
Orofaciodigital Syndrome Xiv	Cryptorchidism, Partial agenesis of the corpus callosum, Epispadias, Unilateral renal hypoplasia,...	OMIM:615948
Townes-Brocks Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Renal insufficie...	OMIM:107480
Pallister-Killian Syndrome	Small scrotum, Hypospadias, Cryptorchidism, Renal cyst, Hypoplastic labia majora, Aplasia of the ...	OMIM:601803
Smith-Lemli-Opitz Syndrome	Abnormal eyelash morphology, Cryptorchidism, Hypopigmentation of hair	ORPHA:818
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Okamoto Syndrome	Urinary incontinence, Bifid uterus, Unilateral renal hypoplasia, Ureteropelvic junction obstructi...	ORPHA:2729
X-Linked Intellectual Disability, Snyder Type	Cryptorchidism, Patchy hypo- and hyperpigmentation, Testicular atrophy, Abnormality of the Leydig...	ORPHA:3063
Craniofacial Microsomia 1	Limbal dermoid, Microphthalmia, Anophthalmia	OMIM:164210
Cornelia De Lange Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal insufficiency, Cryptorchidi...	ORPHA:199
Chand Syndrome	Atelectasis, Hydroureter	ORPHA:1401
Neu-Laxova Syndrome 1	Cryptorchidism, Bifid uterus	OMIM:256520
Norrie Disease	Nystagmus, Blindness, Abnormality of the diencephalon, Cryptorchidism	ORPHA:649
Multiple Osteochondromas	Pneumothorax, Urinary retention, Hemothorax	ORPHA:321
Vascular Ehlers-Danlos Syndrome	Hypospadias, Cryptorchidism, Cystocele, Renovascular hypertension, Bladder diverticulum, Uterine ...	ORPHA:286
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon	OMIM:601374

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 Ap3b1

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 Ap3b1.

No publications found that use IMPC mice or data for Ap3b1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Ap3b1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Ap3b1^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Ap3b1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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