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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 (1001 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		Reduced natural killer cell count, Recurrent pneumonia, Enlarged platelet dense granules, Strabis...	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
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Dyschromatosis Symmetrica Hereditaria	Hyperpigmented/hypopigmented macules	OMIM:127400
Lentiginosis, Inherited Patterned	Hypermelanotic macule	OMIM:151001
Hairy Palms And Soles	Hypermelanotic macule	OMIM:139650
Dowling-Degos Disease 1	Progressive reticulate hyperpigmentation	OMIM:179850
Linear Atrophoderma Of Moulin	Linear hyperpigmentation	ORPHA:140933
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
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules, Reticulated skin pigmentation	OMIM:615674
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	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Nevus, Epidermal	Melanocytic nevus	OMIM:162900
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Premature Ovarian Failure 3	Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea	OMIM:608996
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:618078
Dyschromatosis Universalis Hereditaria	Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype...	ORPHA:241
Diamond-Blackfan Anemia 17	Hyperpigmentation of the skin	OMIM:617409
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t...	OMIM:617294
Ovarian Dysgenesis 2	Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco...	OMIM:300510
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair	OMIM:620199
Premature Ovarian Failure 13	Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea	OMIM:617442
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Premature Ovarian Failure 7	Clitoral hypertrophy, Gonadal dysgenesis, Primary amenorrhea, Premature ovarian insufficiency, Hy...	OMIM:612964
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Hearing impairment, Abnormality of skin pigmentation	OMIM:300719
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair, Recurrent bronchopulmonary infections	ORPHA:90023
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme...	OMIM:145250
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Athrombia, Essential	Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation	OMIM:209050
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2435
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Premature Ovarian Failure 6	Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia...	OMIM:612310
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II...	OMIM:273800
Dowling-Degos Disease 2	Reticular hyperpigmentation, Hypomelanotic macule	OMIM:615327
Glanzmann Thrombasthenia 2	Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet...	OMIM:619267
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism, Leukopenia, Abnormal platelet aggregation, 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
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Tietz Albinism-Deafness Syndrome	Congenital sensorineural hearing impairment, Heterochromia iridis, White eyebrow, White eyelashes...	OMIM:103500
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Premature Ovarian Failure 18	Irregular menstruation, Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of t...	OMIM:619203
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Hermansky-Pudlak Syndrome 3	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Horizontal nystagmus, Spontaneous,...	OMIM:614072
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Primary amenorrhea	OMIM:617690
46,Xy Sex Reversal 3	Clitoral hypertrophy, Gonadal dysgenesis, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Waardenburg Syndrome, Type 2B	Heterochromia iridis, White forelock, Premature graying of hair	OMIM:600193
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ...	ORPHA:998
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary, Primary ameno...	OMIM:619665
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Deafness, Congenital, With Total Albinism	Albinism, Hearing impairment	OMIM:220900
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:614129
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo...	OMIM:614009
Endometriosis, Susceptibility To, 1	Dysmenorrhea, Decreased fertility, Endometriosis	OMIM:131200
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, Sensorineural hearing impairment, White eyebrow, ...	OMIM:227010
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary...	OMIM:614841
Bleeding Disorder, Platelet-Type, 11	Impaired ristocetin-induced platelet aggregation, Abnormal platelet count, Impaired collagen-indu...	OMIM:614201
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hyperpigmentation of the skin, Hypopigmented skin patches	ORPHA:2819
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	White forelock, Macular hyperpigmented dermopathy	ORPHA:2779
Anonychia With Flexural Pigmentation	Anonychia, Axillary and groin hyperpigmentation and hypopigmentation	OMIM:106750
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am...	OMIM:614837
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa...	OMIM:613265
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit...	OMIM:155100
Hyperkeratosis-Hyperpigmentation Syndrome	Irregular hyperpigmentation, Multiple cafe-au-lait spots	ORPHA:1336
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce...	OMIM:277000
Bernard-Soulier Syndrome	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr...	OMIM:231200
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Hermansky-Pudlak Syndrome 7	Epistaxis, Bruising susceptibility, Ocular albinism, Prolonged bleeding after dental extraction, ...	OMIM:614076
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Bleeding Disorder, Platelet-Type, 18	Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephrine-induced ...	OMIM:615888
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Mottled pigmentation of the trunk and proximal extremities, Nail dystrophy, Discrete 2 to 5-mm hy...	OMIM:131960
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Ectopic kidney	OMIM:601076
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot...	ORPHA:79397
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Bleeding Disorder, Platelet-Type, 25	Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta...	OMIM:620486
Hermansky-Pudlak Syndrome 11	Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Hypopla...	OMIM:619172
Hypertrichosis Lanuginosa Congenita	Generalized hirsutism, Thick eyebrow, Hearing impairment, Abnormality of skin pigmentation	ORPHA:2222
Hermansky-Pudlak Syndrome 5	Albinism, Ocular albinism, Impaired ADP-induced platelet aggregation, Hypoplasia of the fovea, Th...	OMIM:614074
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Albinism, Oculocutaneous, Type Vi	Fair hair, Generalized hypopigmentation	OMIM:113750
Glanzmann Thrombasthenia	Gingival bleeding, Menometrorrhagia, Gastrointestinal hemorrhage, Prolonged bleeding following ci...	ORPHA:849
Satoyoshi Syndrome	Amenorrhea, Hypoplasia of the uterus, Mildly elevated creatine kinase	OMIM:600705
Insulin-Resistance Syndrome Type A	Generalized hirsutism, Generalized hyperpigmentation	ORPHA:2297
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Perrault Syndrome 4	Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hyp...	OMIM:615300
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Platelet Disorder, Undefined	Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Yemenite Deaf-Blind Hypopigmentation Syndrome	Severe sensorineural hearing impairment, White forelock, Numerous pigmented freckles, Patchy hypo...	OMIM:601706
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Hypopigmentation of the skin, Neutropenia	OMIM:610798
Microphthalmia/Coloboma 10	Iris coloboma, Microcoria, Anophthalmia, Microphthalmia	OMIM:616428
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Bleeding Disorder, Platelet-Type, 8	Epistaxis, Abnormal bleeding, Bruising susceptibility, Impaired ADP-induced platelet aggregation,...	OMIM:609821
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ...	ORPHA:69125
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa...	OMIM:617443
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Abnormal bleeding, Bruising susceptibility, Transien...	ORPHA:3318
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Hyperpigmentation of the skin, Abnormality of the nail	OMIM:302000
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia	OMIM:608404
46,Xy Sex Reversal 11	Vanishing testis, Primary amenorrhea, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dy...	OMIM:273250
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Generalized hyperpigmentation	ORPHA:2253
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hypopigmentation of the skin, Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Ab...	ORPHA:89838
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Hearing impairment, Premature graying of hair, White forelock, Sensor...	ORPHA:895
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Von Willebrand Disease, Platelet-Type	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Sensorineur...	ORPHA:2885
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Slc35A1-Cdg	Pneumonia, Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abn...	ORPHA:238459
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Von Willebrand Disease, Type 3	Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge...	OMIM:277480
Seckel Syndrome 7	Hypoplasia of the uterus, Primary amenorrhea	OMIM:614851
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
Satoyoshi Syndrome	Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla...	ORPHA:3130
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Spotty hyperpigmentation, Nail dystrophy, Hypomelanotic macule, Mixed hypo- and hyperpigmentation...	ORPHA:79399
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
46,Xx Sex Reversal 2	Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Infertility, True hermaph...	OMIM:278850
Albinism-Deafness Syndrome	Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism	OMIM:300700
Myh9-Related Disease	Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets,...	ORPHA:182050
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Ectopic kidney, Aplasia/hypoplasia of the uterus	ORPHA:2578
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag...	ORPHA:2585
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran...	OMIM:314050
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac...	OMIM:300835
Bleeding Disorder, Platelet-Type, 17	Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility...	OMIM:187900
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Microphthalmia/Coloboma 5	Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Estrogen Resistance	Primary amenorrhea, Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Primary amenorrhea	ORPHA:247768
Hermansky-Pudlak Syndrome 8	Gingival bleeding, Epistaxis, Bruising susceptibility, Excessive bleeding from superficial cuts, ...	OMIM:614077
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch...	ORPHA:432
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ...	OMIM:601399
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Amed Syndrome, Digenic	Hypoplasia of the uterus	OMIM:619151
Gray Platelet Syndrome	Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire...	OMIM:139090
46,Xy Sex Reversal 4	Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplastic labia majora,...	OMIM:154230
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Albinism, Giant melanosomes in melanocytes, Adult onset sensorineural hearing impairment	OMIM:300650
Amyloidosis, Primary Localized Cutaneous, 3	Generalized hyperpigmentation, Hypermelanotic macule	OMIM:617920
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral reflux,...	OMIM:617805
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa...	OMIM:277580
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d...	OMIM:153670
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Renal hypoplasia, Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the u...	OMIM:158330
Factor V Deficiency	Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged prothrombin time, Prolonged blee...	OMIM:227400
Meckel Syndrome 12	Vaginal atresia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral hypoplasia	OMIM:616258
Uv-Sensitive Syndrome 1	Pigmentation anomalies of sun-exposed skin, Freckling	OMIM:600630
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Hermansky-Pudlak Syndrome 6	Epistaxis, Recurrent upper respiratory tract infections, Bruising susceptibility, Strabismus, Hor...	OMIM:614075
Hydatidiform Mole	Menometrorrhagia, Enlarged uterus	ORPHA:99927
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks	OMIM:614323
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ...	ORPHA:33445
Hermansky-Pudlak Syndrome 1	Gingival bleeding, Hematochezia, Epistaxis, Hypopigmentation of the skin, Bruising susceptibility...	OMIM:203300
Gemignani Syndrome	Hypopigmented skin patches	ORPHA:2074
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T...	ORPHA:755
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility, Miscarriage	OMIM:619176
Epidermolysis Bullosa Acquisita	Abnormal hair morphology, Hyperpigmentation of the skin, Nail dystrophy	ORPHA:46487
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop...	OMIM:619374
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail...	ORPHA:2251
Von Willebrand Disease, Type 1	Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged...	OMIM:193400
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Uv-Sensitive Syndrome 3	Freckling	OMIM:614640
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl...	ORPHA:79414
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo...	OMIM:202010
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly,...	ORPHA:3226
Porphyria Cutanea Tarda, Type I	Hyperpigmentation of the skin, Hypertrichosis	OMIM:176090
Woolly Hair, Autosomal Recessive 3	Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Heterochromia iridis, Premature graying of hair	ORPHA:66633
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Recurrent pneumonia, Enlarged platelet dense granules, Strabis...	OMIM:608233
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn...	ORPHA:3437
Griscelli Syndrome Type 1	Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair	ORPHA:79476
Heparin-Induced Thrombocytopenia	Increased serum serotonin, Abnormal onset of bleeding, Pulmonary embolism, Cerebral ischemia, Aut...	ORPHA:3325
Uncombable Hair Syndrome 3	Pili canaliculi, Brittle hair, Uncombable hair, Curly hair	OMIM:617252
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ...	OMIM:266810
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Absent eyelashes, Spotty...	ORPHA:79133
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased testicular size, Decreased fertility, Cryptorchidism, Polycystic ovaries, Enlarged poly...	ORPHA:90796
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Hypoplasia of the uterus, Primary amenorrhea	ORPHA:785
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	ORPHA:638
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m...	ORPHA:3411
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Prothrombin Deficiency, Congenital	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P...	OMIM:613679
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Abnormal male internal genitalia morphology, Abnormal morphology of female interna...	ORPHA:2138
Alopecia Totalis	Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Nail pits, Trachyonychia, Fragile nails	ORPHA:700
Microphthalmia, Syndromic 16	Sclerocornea, Anophthalmia, Microphthalmia	OMIM:611038
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Premature graying of hair	OMIM:616371
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia, Abnormality of skin pigm...	ORPHA:79402
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem...	OMIM:605735
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	ORPHA:488191
Self-Improving Dystrophic Epidermolysis Bullosa	Anonychia, Nail dystrophy, Abnormality of skin pigmentation, Abnormality of the subungual region	ORPHA:79411
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Aminoaciduria, Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased pla...	OMIM:603585
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio...	ORPHA:158681
Complete Androgen Insensitivity Syndrome	Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus...	ORPHA:99429
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm...	ORPHA:90797
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Sea-blue histiocytosis, Splenomegaly, Hyperpigmentation of the skin...	ORPHA:158029
Bernard-Soulier Syndrome	Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein ...	ORPHA:274
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Female infertility, Amenorrhea, Premature ovarian insufficiency, Hypoplas...	OMIM:110100
Caudal Duplication Anomaly	Ureteral duplication, Uterus didelphys	OMIM:607864
Hypotrichosis With Juvenile Macular Degeneration	Fine hair, Melanocytic nevus, Pili torti, Freckling, Brittle hair, Sparse scalp hair	ORPHA:1573
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Sparse eyebrow, Nail dysplasia, Abnormality of skin pigmentation, Recurrent infections, Sparse sc...	OMIM:225050
Night Blindness, Congenital Stationary, Type 1C	Abnormality of skin pigmentation	OMIM:613216
Xeroderma Pigmentosum Variant	Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90342
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177910
Hemophilia B	Menometrorrhagia, Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneou...	ORPHA:98879
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:609441
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Hyperpigmentation of the skin, Brittle hai...	OMIM:104100
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Piebaldism	Hypopigmented skin patches, Hearing impairment, White forelock, Heterochromia iridis, White eyebr...	ORPHA:2884
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Generalized hirsutism, Abnormal eyebrow morphology, Irregular hyperpigmentation, Generalized hypo...	ORPHA:1816
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
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma	OMIM:604219
Oocyte/Zygote/Embryo Maturation Arrest 14	Female infertility, Oocyte maturation arrest	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Microcytic anemia, Abn...	ORPHA:90308
Tubulinopathy-Associated Dysgyria	Abnormal thalamus morphology, Hypoplasia of the pons, Strabismus, Abnormal brainstem morphology, ...	ORPHA:467166
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Renal insuffici...	OMIM:194072
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop...	OMIM:137920
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Obesity And Hypopigmentation	Red hair	OMIM:620195
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Horizontal supranuclear gaze palsy, Hypoplasia of the pons, Fusion of the left and right thalami,...	OMIM:617542
Idiopathic Trachyonychia	Toenail dysplasia, Fingernail dysplasia, Vitiligo, Ridged nail, Nail dystrophy, Patchy alopecia, ...	ORPHA:79153
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Cataract 11, Multiple Types	Cataract, Developmental cataract, Microphthalmia	OMIM:610623
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ...	ORPHA:3109
46,Xx Gonadal Dysgenesis	Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, Decreased fertility, Primary ...	ORPHA:243
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi...	ORPHA:897
Methionine Malabsorption Syndrome	Blue irides, White hair	OMIM:250900
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Von Willebrand Disease	Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Mic...	ORPHA:903
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,...	OMIM:119500
Hyperprolactinemia	Oligomenorrhea, Female infertility, Menorrhagia	OMIM:615555
Microphthalmia/Coloboma 3	Cataract, Iris coloboma, Microphthalmia	OMIM:610092
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Darier Disease	Abnormal hair morphology, Subungual hyperkeratotic fragments, Abnormality of skin pigmentation, H...	ORPHA:218
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Chronic kidney disease, Nephrocalcinosis, Uterus didelphys, Septate vagina, Distal renal tubular ...	OMIM:146255
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Blue Rubber Bleb Nevus	Microcytic anemia, Intestinal bleeding, Prolonged bleeding time	ORPHA:1059
Wiskott-Aldrich Syndrome	Gingival bleeding, Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia...	ORPHA:906
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Deafness-Vitiligo-Achalasia Syndrome	Hypopigmented skin patches, Sensorineural hearing impairment	ORPHA:3239
Woodhouse-Sakati Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Premature ovarian insuffici...	OMIM:241080
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity, Cataract	OMIM:618660
Phenylketonuria	Hypopigmentation of the skin	ORPHA:716
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Freckling, Hypoplastic toenails	ORPHA:1547
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Uveal ectropion, Corneal stro...	OMIM:617319
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia, Abnormal bleeding, Prolonged bleeding time	OMIM:185050
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus	OMIM:258320
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue...	ORPHA:352731
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation, Sparse body hair	ORPHA:1810
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus	OMIM:615866
Microphthalmia, Syndromic 9	Renal hypoplasia, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Hypoplasia of the uterus, Bic...	OMIM:601186
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Deafness, Congenital, With Vitiligo And Achalasia	Vitiligo, Hearing impairment	OMIM:221350
Odontotrichoungual-Digital-Palmar Syndrome	Abnormality of hair texture, Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy	OMIM:601957
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Chédiak-Higashi Syndrome	Gingival bleeding, Hemophagocytosis, Horizontal nystagmus, Strabismus, Rotary nystagmus, Hepatosp...	ORPHA:167
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Clouston Syndrome	Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ...	OMIM:129500
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
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
Spastic Paraplegia 23, Autosomal Recessive	Multiple lentigines, Vitiligo, Hyperpigmentation in sun-exposed areas, Premature graying of body ...	OMIM:270750
Wiskott-Aldrich Syndrome	Gingival bleeding, Nephropathy, Decreased proportion of CD8-positive T cells, Lymphopenia, Abnorm...	OMIM:301000
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va...	ORPHA:65681
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Acute Radiation Syndrome	Cataract, Hypopigmentation of the skin, Lymphopenia, Hyperpigmentation of the skin, Thrombocytope...	ORPHA:454831
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, Ocular a...	OMIM:214500
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormality of eye movement, Abnormal best corrected visual acuity test, Abnormal thalamus morpho...	ORPHA:300570
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411515
Congenital Factor Ii Deficiency	Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ...	ORPHA:325
Mixed Connective Tissue Disease	Nephropathy, Gastrointestinal hemorrhage, Leukopenia, Hemolytic anemia, Splenomegaly, Purpura, Pu...	ORPHA:809
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Anophthalmia, Microphthalmia, Sclerocornea, Iris coloboma	ORPHA:139471
Familial Acute Necrotizing Encephalopathy	Abnormal visual fixation, Abnormal thalamus morphology, Abnormal brainstem morphology, Choroid he...	ORPHA:88619
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion, Nystagmus, Aspiration pneumonia	OMIM:619057
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
Waardenburg Syndrome, Type 3	Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch...	OMIM:148820
Woodhouse-Sakati Syndrome	Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis, Micropenis, Prem...	ORPHA:3464
Adenohypophysitis	Secondary growth hormone deficiency, Decreased serum estradiol, Diplopia, Increased circulating p...	ORPHA:95512
Panhypophysitis	Secondary growth hormone deficiency, Decreased serum estradiol, Diplopia, Increased circulating p...	ORPHA:95513
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Irregular menstruation, Increased urinary 11-deoxycorticosterone level, Male hypogonadism, Precoc...	ORPHA:90793
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Thalamic hemorrha...	ORPHA:464321
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Hear...	ORPHA:894
Congenital Muscular Dystrophy With Cerebellar Involvement	Decreased thalamic volume, Hypoplasia of the pons, Cardiomyopathy, Hypoplasia of the brainstem, S...	ORPHA:370959
Spinocerebellar Ataxia With Epilepsy	Ophthalmoparesis, Acute hepatic failure, Focal T2 hyperintense thalamic lesion, Hemianopia, Gaze-...	ORPHA:254881
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Decreased thalamic volume, Hypoplasia of the brainstem	OMIM:613668
Coach Syndrome 3	Nephronophthisis, Strabismus, Stage 5 chronic kidney disease, Renal insufficiency, Oculomotor apr...	OMIM:619113
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias	OMIM:309801
Mgat2-Cdg	Decreased circulating IgG level, Abnormal bleeding, Arrhythmia, Reduced level of N-acetylglucosam...	ORPHA:79329
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni...	ORPHA:79477
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Thrombocytopenia	ORPHA:67048
Cach Syndrome	Renal hypoplasia, Lateral ventricle dilatation, Hepatosplenomegaly, Blindness, T2 hypointense tha...	ORPHA:135
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Phenylketonuria	Fair hair, Blue irides, Generalized hypopigmentation, Cataract	OMIM:261600
Combined Oxidative Phosphorylation Defect Type 7	Dyschromatopsia, Visual field defect, Ophthalmoplegia, Exodeviation, Nystagmus, Abnormal brainste...	ORPHA:254930
Japanese Encephalitis	Abnormal midbrain morphology, Abnormal thalamus morphology, Limited extraocular movements, Abnorm...	ORPHA:79139
Joubert Syndrome 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Hypometric saccades, Elong...	OMIM:609583
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Sparse lateral eyebrow, Hypopigmented skin patches, Distichiasis, Abnormal...	ORPHA:1807
Myoectodermal Gonadal Dysgenesis Syndrome	Unilateral renal agenesis, Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus...	OMIM:618419
Joubert Syndrome 36	Molar tooth sign on MRI, Strabismus	OMIM:618763
Premature Ovarian Failure 22	Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in...	OMIM:620548
Wolfram Syndrome 2	Abnormal bleeding, Neurogenic bladder, Decreased circulating antibody level, Impaired collagen-in...	OMIM:604928
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Decreased thalamic volume, Hypoplasia of the brainstem	OMIM:619072
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Gastrointestinal hemorrhage, Epistaxis, Bruising susceptibility, Abno...	ORPHA:324636
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa...	OMIM:613266
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Leukoencephalopathy With Dystonia And Motor Neuropathy	Focal T2 hyperintense thalamic lesion, Slow saccadic eye movements, Azoospermia	OMIM:613724
Juvenile Neuronal Ceroid Lipofuscinosis	Aspiration pneumonia, Focal T2 hyperintense thalamic lesion, Abnormal circulating enzyme concentr...	ORPHA:79264
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Female infertility, Streak ovary, Decreased fertility, Polycystic ovaries, Oligomenorrhea, Premat...	ORPHA:572333
Bullous Diffuse Cutaneous Mastocytosis	Profuse pigmented skin lesions	ORPHA:280785
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Large Congenital Melanocytic Nevus	Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit...	ORPHA:626
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Hypopigmentation of the skin, Decreased number of sweat glands, Dystrop...	ORPHA:69087
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia	OMIM:164180
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Agenesis of corpus callosum	ORPHA:166024
Progeria-Short Stature-Pigmented Nevi Syndrome	Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, Abnormal thal...	ORPHA:2959
Leigh Syndrome	3-Methylglutaconic aciduria, Agenesis of corpus callosum, Ophthalmoplegia, Neutropenia, Nephrotic...	ORPHA:506
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of...	OMIM:203100
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Microphthalmia	OMIM:251270
Joubert Syndrome 13	Molar tooth sign on MRI	OMIM:614173
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A...	ORPHA:2334
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Hypopigmented skin patches, Sensorineural hearing impairment, Hyperpigment...	ORPHA:3214
Microphthalmia, Syndromic 5	Cataract, Microcornea, Anophthalmia, Microphthalmia, Optic nerve hypoplasia	OMIM:610125
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy, Focal T2 hyperintense thalamic lesion, Splenomegaly, Macrocytic anemia, Nystagmus	OMIM:619046
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Hypopigmentation of the skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Alopecia Universalis	Alopecia universalis, Vitiligo, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of...	ORPHA:701
Infantile Sialic Acid Storage Disease	Vacuolated lymphocytes, Hypopigmentation of the skin, Fair hair, Splenomegaly	OMIM:269920
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina	OMIM:613801
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Thalamic calcification, Nystagmus	OMIM:618824
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot	OMIM:618541
Lichen Planus Pemphigoides	Hypopigmented streaks, Abnormality of the nail	ORPHA:254478
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Impaired platelet aggregation	OMIM:618372
Griscelli Syndrome	Silver-gray hair, Iris hypopigmentation, Bone marrow hypocellularity, Hypopigmented skin patches,...	ORPHA:381
Waardenburg Syndrome, Type 2E	Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Ocular albinism, Ap...	OMIM:611584
Coach Syndrome 2	Elevated circulating hepatic transaminase concentration, Strabismus, Agenesis of corpus callosum,...	OMIM:619111
Cockayne Syndrome Type 2	Conjunctivitis, Hypermelanotic macule, Anophthalmia, Developmental cataract	ORPHA:90322
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Freckling, Hypermelanotic macule	OMIM:618373
Glucocorticoid Deficiency 3	Hyperpigmentation of the skin	OMIM:609197
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	ORPHA:444013
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Generalized hypopigmentation, Microphthalmia, Iris transillumination defect	OMIM:617306
Anencephaly 2	Anophthalmia	OMIM:619452
Congenital Rubella Syndrome	Cataract, Splenomegaly, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corn...	ORPHA:290
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation	ORPHA:745
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Meningioma	Increased circulating prolactin concentration, Weak extraocular muscles, Neoplasm of the posterio...	ORPHA:2495
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Trisomy 13	Cataract, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Iris coloboma	ORPHA:3378
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Cataract, Hepatosplenomegaly	OMIM:273680
Meckel Syndrome, Type 8	Anophthalmia, Microphthalmia	OMIM:613885
Familial Melanoma	Abnormal hair morphology, Freckling	ORPHA:618
Macs Syndrome	Alopecia, Sparse eyebrow, Bruising susceptibility, Sparse hair, Prolonged bleeding time, Hypergon...	OMIM:613075
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Hypometric saccades, Thalamic calcification	OMIM:618317
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Vitiligo, Multiple lentigines	ORPHA:101003
Classic Phenylketonuria	Cataract, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal thalamus morphology, Strabismus, Hypermetropia, Hemianopia, Myopia	ORPHA:404440
Dyskeratosis Congenita, Autosomal Recessive 3	Nail dystrophy, Abnormality of skin pigmentation	OMIM:613988
Joubert Syndrome 31	Duane anomaly, Strabismus, Oculomotor apraxia, Nystagmus, Molar tooth sign on MRI	OMIM:617761
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Sclerocornea, Corneal opacity, Ocular anterior segment dysgenesis, Anterio...	OMIM:269400
Bazex-Dupre-Christol Syndrome	Coarse hair, Trichorrhexis nodosa, Pili torti, Hyperpigmentation of the skin, Sparse hair, Tricho...	OMIM:301845
Atelis Syndrome 1	Cataract, Irregular hyperpigmentation, Leukopenia, Thrombocytopenia, Anemia, Cafe-au-lait spot	OMIM:620184
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Uterus didelphys, Septate vagina, Vesicoureteral reflux, Renal insuffi...	ORPHA:2237
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Nephrocalcinosis, Abnormal thalamus morphology	ORPHA:557003
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Abnormality of skin pigmentation	ORPHA:220402
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Microphthalmia	OMIM:120433
Relapsing Fever	Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Abnormal bleedin...	ORPHA:91547
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Bronchiectasis, Atelectasis, Agenesis of corpus callosum	OMIM:619466
Adult Krabbe Disease	Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal circulating enzyme ...	ORPHA:206448
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Sex reversal, Clitoral hypertrophy, Abnormality of the Leydig cells, Hypern...	ORPHA:168558
Microphthalmia, Isolated 5	Cataract, Bone spicule pigmentation of the retina, Microphthalmia	OMIM:611040
C1Q Deficiency 2	Atelectasis, Vasculitis in the skin, Anemia, Recurrent lower respiratory tract infections, Bronch...	OMIM:620321
Classic Mycosis Fungoides	Alopecia, Abnormality of the nail, Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2584
Lichen Planopilaris	Abnormal fingernail morphology, Alopecia, Hypopigmented skin patches, Onycholysis	ORPHA:525
Waardenburg Syndrome	Conductive hearing impairment, Hypopigmented skin patches, Hearing impairment, Premature graying ...	ORPHA:3440
Menkes Disease	Hypopigmentation of the skin, Alopecia, Sparse hair, Brittle hair	OMIM:309400
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume	OMIM:618646
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Sex reversal, Clitoral hypertrophy, Abnormality of the Leydig cells, Hypern...	ORPHA:289548
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Generalized hyper...	ORPHA:2930
Maternal Uniparental Disomy Of Chromosome X	Low posterior hairline, Hypopigmentation of the skin	ORPHA:261519
Slc35A2-Cdg	Abnormal midbrain morphology, Elevated circulating hepatic transaminase concentration, Elevated c...	ORPHA:356961
Lelis Syndrome	Yellow nails, Sparse lateral eyebrow, Vitiligo, Perioral hyperpigmentation, Nail dystrophy, Abnor...	ORPHA:140936
Renal Agenesis	Unilateral renal agenesis, Absent vas deferens, Aplasia/hypoplasia of the uterus, Ureteral agenes...	ORPHA:411709
Anophthalmia Plus Syndrome	Iris coloboma, Anophthalmia	ORPHA:1104
Carney Complex, Type 1	Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, Cataract, Hypochromic anemia, White hair, Ocular albinism, Generalized hyp...	ORPHA:2720
Acquired Hypertrichosis Lanuginosa	Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair	ORPHA:2221
Joubert Syndrome 3	Nephronophthisis, Lateral ventricle dilatation, Stage 5 chronic kidney disease, Elongated superio...	OMIM:608629
Abcd Syndrome	Polycythemia, Neonatal death, White eyebrow, White eyelashes, Albinism	OMIM:600501
Vici Syndrome	Cataract, Decreased circulating IgG level, Hypopigmentation of the skin, Decreased circulating Ig...	ORPHA:1493
Afibrinogenemia, Congenital	Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr...	OMIM:202400
Joubert Syndrome 30	Abnormality of eye movement, Reduced visual acuity, Molar tooth sign on MRI, Agenesis of corpus c...	OMIM:617622
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Cataract, Hypopigmentation of the skin, Abnormality of thrombocytes, Ocula...	ORPHA:79430
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Hypopigmented skin patches	ORPHA:330064
Walker-Warburg Syndrome	Cataract, Microcornea, Anophthalmia, Corneal opacity, Microphthalmia, Iris coloboma	ORPHA:899
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Horseshoe kidney, Cryp...	OMIM:201750
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the skin, Conge...	ORPHA:1867
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Elongated superior cerebellar pedun...	OMIM:618161
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Sparse hair, Nail dystrophy, Abnormality of skin pigmentation	OMIM:616353
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Microphthalmia, Sclerocornea	OMIM:615877
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Iris coloboma, Anophthalmia, Microphthalmia	ORPHA:77298
Coasy Protein-Associated Neurodegeneration	Abnormal thalamus morphology	ORPHA:397725
Cockayne Syndrome Type 1	Cataract, Pigmentary retinopathy, Anophthalmia, Anemia, Conjunctivitis, Hypermelanotic macule	ORPHA:90321
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Pulmonary embolism, Blindness, Cerebral hemorrhage, Anemia, Purpura	OMIM:614514
Attenuated Chédiak-Higashi Syndrome	Recurrent respiratory infections, Generalized hypopigmentation, Ocular albinism	ORPHA:352723
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Giant melanosomes in melanocytes, Freckling, Ocular albinism	ORPHA:54
Al-Raqad Syndrome	Hypopigmentation of the skin	OMIM:616459
Orofaciodigital Syndrome Xv	Hydronephrosis, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:617127
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the uterus, Abnormality of the ureter, ...	ORPHA:2970
Joubert Syndrome 33	Oculomotor apraxia, Splenomegaly, Molar tooth sign on MRI	OMIM:617767
Dentinogenesis Imperfecta	Bruising susceptibility, Prolonged bleeding time	ORPHA:49042
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Ataxia-Telangiectasia	Premature graying of hair, Lymphopenia, Multiple cafe-au-lait spots, Hypopigmentation of hair, De...	ORPHA:100
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Generalized hypopigmentation of hair, Premature graying of hair, Gen...	ORPHA:3322
Allergic Bronchopulmonary Aspergillosis	Emphysema, Abnormal eosinophil morphology, Pulmonary arterial hypertension, Bronchiectasis	ORPHA:1164
Basal Ganglia Calcification, Idiopathic, 5	Thalamic calcification	OMIM:615483
Joubert Syndrome 7	Nephronophthisis, Hypoplasia of the brainstem, Brainstem dysplasia, Stage 5 chronic kidney diseas...	OMIM:611560
Acquired Purpura Fulminans	Hepatic failure, Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Thrombo...	ORPHA:49566
Aceruloplasminemia	Congestive heart failure, Abnormal circulating enzyme concentration or activity, Nystagmus, Hypoc...	ORPHA:48818
Lujo Hemorrhagic Fever	Hypotension, Elevated circulating hepatic transaminase concentration, Increased circulating lacta...	ORPHA:319213
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98795
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Hypomelanosis Of Ito	Cataract, Iris coloboma, Macular hypopigmented whorls, streaks, and patches	OMIM:300337
Joubert Syndrome 9	Stage 5 chronic kidney disease, Oculomotor apraxia, Cerebral visual impairment, Nystagmus, Molar ...	OMIM:612285
Joubert Syndrome 18	Abnormality of eye movement, Horseshoe kidney, Agenesis of corpus callosum, Renal cyst, Molar too...	OMIM:614815
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris coloboma	ORPHA:1473
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	T2 hypointense thalamus	OMIM:618193
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches, Sensorineural hearin...	ORPHA:53271
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormality of skin pigmentation	ORPHA:743
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypopigmented skin patches	ORPHA:3143
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperpigmentation of the skin	OMIM:613743
Joubert Syndrome 28	Oculomotor apraxia, Nystagmus, Molar tooth sign on MRI, Strabismus	OMIM:617121
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Con...	OMIM:610256
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome	Hearing impairment, Abnormality of skin pigmentation	ORPHA:457260
Premature Ovarian Failure 20	Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle...	OMIM:619938
Alexander Disease Type I	Abnormal thalamic MRI signal intensity	ORPHA:363717
Ovarian Fibrothecoma	Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O...	ORPHA:314478
Phakomatosis Pigmentovascularis	Generalized hyperpigmentation, Hypopigmented skin patches	ORPHA:2875
Hemochromatosis, Type 4	Anemia, Cataract, Hyperpigmentation of the skin	OMIM:606069
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Apla...	ORPHA:2232
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Amoebiasis Due To Free-Living Amoebae	Abnormal midbrain morphology, Increased red blood cell count, Abnormal medulla oblongata morpholo...	ORPHA:68
Joubert Syndrome 2	Nephronophthisis, Abnormal saccadic eye movements, Hypoplasia of the brainstem, Rotary nystagmus,...	OMIM:608091
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Hypoplasia of the pons, Anterior hypopituitarism	ORPHA:280195
Chronic Bilirubin Encephalopathy	Prolonged neonatal jaundice, Hemolytic anemia, Visual gaze preference, Abnormal thalamic MRI sign...	ORPHA:529808
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Neuroferritinopathy	Impaired smooth pursuit, T2 hypointense thalamus, Upgaze palsy, Iron accumulation in substantia n...	ORPHA:157846
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h...	ORPHA:79126
Hellp Syndrome	Hypotension, Elevated circulating hepatic transaminase concentration, Increased circulating lacta...	ORPHA:244242
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape, External ophthalmoplegia, Visual impairment, Abnormal thalamic MRI ...	ORPHA:485421
Sandhoff Disease, Infantile Form	Reduced beta-hexosaminidase activity, Hepatosplenomegaly, Mitral regurgitation, Abnormal thalamic...	ORPHA:309155
Acute Bilirubin Encephalopathy	Prolonged neonatal jaundice, Upgaze palsy, Hemolytic anemia, Abnormal thalamic MRI signal intensity	ORPHA:529799
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Hypopigmented skin patches	ORPHA:1825
Noonan Syndrome	Coarse hair, Abnormal bleeding, Juvenile myelomonocytic leukemia, Bruising susceptibility, Abnorm...	ORPHA:648
Alg3-Cdg	Cataract, Hypopigmentation of the skin	ORPHA:79321
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	T2 hypointense thalamus, Visual impairment, Progressive visual loss	ORPHA:1947
Townes-Brocks Syndrome 2	Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Panaci...	OMIM:613490
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Factor X Deficiency	Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge...	OMIM:227600
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
Vici Syndrome	Cataract, Cutaneous anergy, Hypopigmentation of the skin, Decreased circulating IgG level, Ocular...	OMIM:242840
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Aplasia of the vagina, Hydronephrosis, Aplasia of the uterus, Urethral...	OMIM:271520
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia, Pulmonary fibrosis	OMIM:620365
Farber Disease	Recurrent upper respiratory tract infections, Hepatic failure, Elevated circulating hepatic trans...	ORPHA:333
Meckel Syndrome 13	Oculomotor apraxia, Polycystic kidney dysplasia, Molar tooth sign on MRI	OMIM:617562
Joubert Syndrome 25	Oculomotor apraxia, Molar tooth sign on MRI	OMIM:616781
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Joubert Syndrome 32	Hypertrophic cardiomyopathy, Oculomotor apraxia, Nystagmus, Molar tooth sign on MRI	OMIM:617757
Coach Syndrome 1	Unilateral renal agenesis, Elevated circulating hepatic transaminase concentration, Nephronophthi...	OMIM:216360
Joubert Syndrome 16	Renal cyst, Oculomotor apraxia, Molar tooth sign on MRI, Nephronophthisis	OMIM:614465
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis	OMIM:615872
Leukocyte Adhesion Deficiency	Pneumonia, Bone marrow hypocellularity, Abnormality of neutrophil physiology, Abnormal bleeding, ...	ORPHA:2968
Joubert Syndrome 20	Renal cyst, Oculomotor apraxia, Molar tooth sign on MRI	OMIM:614970
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Blue irides	OMIM:614613
46,Xx Sex Reversal 1	Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia...	OMIM:400045
Isolated Aniridia	Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula	ORPHA:250923
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Pulmonary arterial hypertension, Abnorma...	OMIM:612387
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation	OMIM:240200
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411511
Acquired Von Willebrand Syndrome	Normocytic anemia, Epistaxis, Gastrointestinal hemorrhage, Hypochromic anemia, Aortic valve steno...	ORPHA:99147
Renal Hypodysplasia/Aplasia 1	Proteinuria, Primary amenorrhea, Bicornuate uterus, Vaginal atresia	OMIM:191830
Blindness-Scoliosis-Arachnodactyly Syndrome	Lens subluxation, Microphakia, Abnormality of retinal pigmentation, Cataract	ORPHA:171844
Common Variable Immunodeficiency	Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Emphysema, Lympho...	ORPHA:1572
Thrombocytopenia-Absent Radius Syndrome	Horseshoe kidney, Aplasia of the uterus	ORPHA:3320
X-Linked Agammaglobulinemia	Hypopigmented skin patches, Agammaglobulinemia, Thrombocytopenia, Neutropenia, Anemia, Conjunctiv...	ORPHA:47
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Increased circulating lactate dehydrogenase concentration, Atelectasis, Pulmonary ...	ORPHA:254361
Lumbar Syndrome	Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora, Ambiguous genital...	ORPHA:83628
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Tay-Sachs Disease	Abnormality of eye movement, Aspiration pneumonia, Abnormal circulating enzyme concentration or a...	ORPHA:845
Porphyria, Congenital Erythropoietic	Hypopigmentation of the skin, Corneal scarring, Splenomegaly, Hyperpigmentation of the skin, Thro...	OMIM:263700
Hydrolethalus	Anophthalmia, Microphthalmia	ORPHA:2189
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Donnai-Barrow Syndrome	Proteinuria, Bicornuate uterus, Abnormality of the uterus	ORPHA:2143
Adult Syndrome	Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Melanocytic nevus, Fing...	ORPHA:978
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in females, Hypernatriuria, Abnormality of t...	ORPHA:90794
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:99901
Joubert Syndrome 15	Micropenis, Oculomotor apraxia, Molar tooth sign on MRI, Nephronophthisis	OMIM:614464
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Matthew-Wood Syndrome	Abnormal spleen morphology, Anophthalmia, Microphthalmia	ORPHA:2470
Branchiogenic Deafness Syndrome	Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove...	ORPHA:50815
Fibular Hemimelia	Abnormal anterior chamber morphology, Anophthalmia, Thrombocytopenia	ORPHA:93323
Epidermodysplasia Verruciformis	Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:302
Dowling-Degos Disease	Inguinal freckling, Hypermelanotic macule, Abnormal fingernail morphology, Mixed hypo- and hyperp...	ORPHA:79145
Xeroderma Pigmentosum, Complementation Group C	Conjunctivitis, Hypopigmentation of the skin, Keratitis, Freckling	OMIM:278720
Waardenburg Syndrome, Type 1	Premature graying of hair, Partial albinism, Thick eyebrow, White forelock, Heterochromia iridis,...	OMIM:193500
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Pseudohypoparathyroidism Type 1A	Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Strabism...	ORPHA:79443
Joubert Syndrome 27	Oculomotor apraxia, Esodeviation, Molar tooth sign on MRI	OMIM:617120
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Keratoconjunctivitis sicca, Abnormality of skin pigmentation, Microphthalm...	ORPHA:1806
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypopigmentation of the skin, Decreased circulating antibody level, Generalized reticulate brown ...	ORPHA:79396
3P25.3 Microdeletion Syndrome	Abnormal thalamus morphology, Pulmonic stenosis	ORPHA:435638
Neurofibromatosis, Familial Spinal	Cafe-au-lait spot, Freckling	OMIM:162210
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Pleural effusion, ...	ORPHA:2902
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Lens subluxation, Hypopigmentation of the skin, Ectopia lentis	OMIM:236200
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Stage 5 chronic kidney...	OMIM:614527
Osteogenesis Imperfecta, Type Xvi	Bruising susceptibility, Prolonged bleeding time	OMIM:616229
Acute Disseminated Encephalomyelitis	Viral hepatitis, Visual loss, Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI sign...	ORPHA:83597
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormal bl...	ORPHA:64743
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Fusion of the left and right thalami, Molar tooth sign on MRI, Hypoplasia of th...	OMIM:619306
Joubert Syndrome 22	Renal hypoplasia, Oculomotor apraxia, Molar tooth sign on MRI	OMIM:615665
Bronchopulmonary Dysplasia	Right ventricular failure, Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration	ORPHA:70589
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada...	OMIM:194080
Joubert Syndrome 40	Oculomotor apraxia, Molar tooth sign on MRI	OMIM:619582
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Joubert Syndrome 6	Nephronophthisis, Hypoplasia of the brainstem, Stage 5 chronic kidney disease, Blindness, Elongat...	OMIM:610688
Joubert Syndrome 14	Strabismus, Hypoplasia of the brainstem, Renal cyst, Cerebral visual impairment, Nystagmus, Molar...	OMIM:614424
Congenital Fibrinogen Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ...	ORPHA:335
Meckel Syndrome 14	Aplasia of the uterus, Ambiguous genitalia, Polycystic kidney dysplasia	OMIM:619879
Curry-Jones Syndrome	Iris coloboma, Hypopigmented skin patches, Microphthalmia	ORPHA:1553
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Dilated third ventricle, Elevated circulating hepatic transaminase concentration, Duane anomaly, ...	ORPHA:397715
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Free Sialic Acid Storage Disease	Iris hypopigmentation, Abnormality of skin pigmentation	ORPHA:834
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ophthalmoparesis, Dilated cardiomyopathy, Nystagmus, Upgaze palsy, Abnormal thalamic MRI signal i...	ORPHA:70595
Diffuse Alveolar Hemorrhage	Leukocytosis, Pulmonary venous hypertension, Hematuria, Proteinuria, Irregular septal thickening ...	ORPHA:90060
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia	OMIM:206920
Peters Plus Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Ureteral duplication, Hypoplasia of...	ORPHA:709
Polycythemia Vera	Gingival bleeding, Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Po...	ORPHA:729
Joubert Syndrome 38	Ectopic posterior pituitary, Small pituitary gland, Strabismus, Decreased response to growth horm...	OMIM:619476
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Visual impairment, Atelectasis, Pulmonary fibrosis, Strabismus, ...	OMIM:618278
Cog8-Cdg	Elevated circulating hepatic transaminase concentration, Spontaneous hematomas, Alternating esotr...	ORPHA:95428
Bartter Syndrome, Type 2, Antenatal	Nephrocalcinosis, Hyperchloriduria, Hyperaldosteronism, Increased urinary potassium, Hypercalciur...	OMIM:241200
Bloom Syndrome	Decreased circulating IgG level, Hypopigmentation of the skin, Azoospermia, Decreased circulating...	OMIM:210900
Manitoba Oculotrichoanal Syndrome	Corneopalpebral synechiae, Anophthalmia, Microphthalmia	OMIM:248450
Terminal Osseous Dysplasia	Low-set ears, Abnormality of skin pigmentation	OMIM:300244
Asbestos Intoxication	Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular ...	ORPHA:2302
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Leukopenia...	OMIM:613989
Crouzon Syndrome	Conjunctivitis, Melanocytic nevus, Iris coloboma, Hypopigmented skin patches	ORPHA:207
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Myocardial infarction, Acute infectious pneumonia, Recurr...	ORPHA:60033
Pulmonary Arteriovenous Malformation	Epistaxis, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient ischemic ...	ORPHA:2038
Joubert Syndrome 37	Marcus Gunn jaw winking synkinesis, Hydronephrosis, Oculomotor apraxia, Molar tooth sign on MRI, ...	OMIM:619185
Epidermal Nevus Syndrome	Hypopigmentation of the skin, Astigmatism, Hyperpigmentation of the skin	ORPHA:35125
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma, Hypopigmented skin patches	ORPHA:3453
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Abnormality of retinal pigmentation, Anophthalmia, Posterior embryoto...	ORPHA:2556
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Nail dystrophy, Hirsutism, Low posterior hairline, Spotty hypopigmentation, ...	OMIM:300860
Trisomy 1Q	Anophthalmia	ORPHA:261344
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Iris coloboma, Anophthalmia, Microphthalmia	ORPHA:2250
Peters-Plus Syndrome	Renal hypoplasia, Cryptorchidism, Hydronephrosis, Hypoplastic labia majora, Hypoplasia of the vag...	OMIM:261540
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Anophthalmia, Microphthalmia, Sclerocornea, Optic nerve hypoplasia	OMIM:206900
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Pancytopenia, Hematuria, Neutrophilia, Jaundice, Tachycardia, Purpura, Diffuse...	ORPHA:99827
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal hair morphology, Abnormality of skin pigmentation, Premature graying of hair	ORPHA:1979
New-Onset Refractory Status Epilepticus	Abnormal thalamic MRI signal intensity	ORPHA:363558
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Angelman Syndrome	Fair hair, Hypopigmentation of the skin, Blue irides	OMIM:105830
Catastrophic Antiphospholipid Syndrome	Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Transient ischemic att...	ORPHA:464343
Meconium Aspiration Syndrome	Atelectasis, Aspiration pneumonia, Pulmonary arterial hypertension, Pneumothorax, Abnormal heart ...	ORPHA:70588
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Stomatocytosis, Decreased thalamic volume, Hepatosplenomegaly, Nyst...	ORPHA:168577
Hypophosphatasia	Anemia, Emphysema	ORPHA:436
Hand-Foot-Genital Syndrome	Abnormality of the urethra, Abnormality of the uterus, Vesicoureteral reflux, Ureteropelvic junct...	ORPHA:2438
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time	ORPHA:1901
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Emphysema, Lymphopenia...	OMIM:242700
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Corneal dystrophy, Anophthalmia, Megalocornea	ORPHA:1101
Porphyria Cutanea Tarda	Abnormal erythrocyte enzyme concentration or activity, Corneal scarring, Hypopigmentation of the ...	ORPHA:101330
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98794
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Decreased response t...	OMIM:610978
Congenital Disorder Of Glycosylation, Type Iq	Low-set ears, Abnormality of skin pigmentation, Hypertrichosis	OMIM:612379
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Azoospermia, Streak ovary, Abnormal spermatogenesis, Male ...	ORPHA:261529
Cataract 47	Cataract, Microcornea	OMIM:612018
Noonan Syndrome 9	Sparse eyebrow, Prolonged prothrombin time, Curly hair	OMIM:616559
Infant Acute Respiratory Distress Syndrome	Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T...	ORPHA:70587
Porphyria Variegata	Anemia, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:79473
Familial Nasal Acilia	Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis, Abnormal respiratory m...	ORPHA:922
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:607131
Joubert Syndrome With Ocular Defect	Strabismus, Visual loss, Agenesis of corpus callosum, Oculomotor apraxia, Nystagmus, Molar tooth ...	ORPHA:220493
Joubert Syndrome With Renal Defect	Nephropathy, Strabismus, Renal insufficiency, Agenesis of corpus callosum, Oculomotor apraxia, Ny...	ORPHA:220497
Fanconi Anemia, Complementation Group L	Micropenis, Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus	OMIM:614083
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am...	ORPHA:284339
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Abnormal bleeding, Congestive heart failure, Leukopenia, 3-Methylglutaconic ...	OMIM:616271
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Elevated circulating hepatic transaminase concentration, Proxima...	OMIM:212065
Meckel Syndrome	Accessory spleen, Cataract, Microcornea, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphtha...	ORPHA:564
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Decreased circulating IgA level, Decreased proportion of class-switched memory B cells,...	OMIM:614878
Duplication Of Urethra	Clitoral hypertrophy, Anuria, Uterus didelphys, Bifid scrotum, Dysuria, Rectourethral fistula, Di...	ORPHA:237
Bickerstaff Brainstem Encephalitis	Pneumonia, Abnormality of eye movement, Diplopia, Respiratory tract infection, Ophthalmoplegia, N...	ORPHA:79138
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:614120
Intellectual Disability And Myopathy Syndrome	Spotty hypopigmentation, Cafe-au-lait spot	OMIM:619719
Joubert Syndrome With Oculorenal Defect	Nephropathy, Strabismus, Blindness, Renal insufficiency, Nystagmus, Molar tooth sign on MRI, Visu...	ORPHA:2318
Immunodeficiency 89 And Autoimmunity	Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgA level...	OMIM:619632
Microphthalmia, Syndromic 6	Renal hypoplasia, Aplasia of the optic tract, Blindness, Nystagmus, Myopia, Anterior hypopituitarism	OMIM:607932
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Cataract, Abnormality of retinal pigmentation, Anophthalmia, Microphthalmia, Leukemia	ORPHA:2526
Arima Syndrome	Nephronophthisis, Hypoplasia of the brainstem, Brainstem dysplasia, Stage 5 chronic kidney diseas...	OMIM:243910
Congenital Erythropoietic Porphyria	Hypopigmentation of the skin, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, A...	ORPHA:79277
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Agenesis of corpus callosum, Abnormal hypothalamus morphology, Cong...	ORPHA:314621
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Zygomycosis	Hematochezia, Gastrointestinal hemorrhage, Melena, Epistaxis, Hepatitis, Atelectasis, External op...	ORPHA:73263
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Budd-Chiari syndrome, Iron deficiency anemia, Thrombocytosis, Anemia, Recurre...	OMIM:226300
Phocomelia, Schinzel Type	Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism	ORPHA:2879
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Tricuspid regurgitation, Leukocytosis, P...	OMIM:620233
Congenital Alpha2-Antiplasmin Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag...	ORPHA:79
Rhombencephalosynapsis	Fusion of the left and right thalami, Abnormality of vision	ORPHA:59315
Gastrointestinal Stromal Tumor	Hyperpigmentation of the skin	OMIM:606764
Bile Acid Synthesis Defect, Congenital, 3	Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circulating aspartat...	OMIM:613812
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat...	ORPHA:3202
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Hypertrichosis, Leukopenia, Reticulocytosis, Petechiae, Neutro...	ORPHA:2330
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of skin pigmentation, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes	ORPHA:75496
Joubert Syndrome 1	Nephropathy, Abnormal saccadic eye movements, Strabismus, Hypoplasia of the brainstem, Impaired s...	OMIM:213300
Galloway-Mowat Syndrome 1	Cataract, Hypopigmentation of the skin, Hypoplasia of the iris, Microphthalmia, Opacification of ...	OMIM:251300
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Hepatic failure, Portal hypertension	OMIM:210050
Pontocerebellar Hypoplasia, Type 7	Hirsutism, Hypopigmentation of the skin, Synophrys	OMIM:614969
Schimmelpenning-Feuerstein-Mims Syndrome	Hypopigmentation of the skin, Corneal opacity	OMIM:163200
Squalene Synthase Deficiency	Low-set ears, Posteriorly rotated ears, Abnormality of hair pigmentation, Macrotia	OMIM:618156
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Low-set ears, Abnormality of skin pigmentation	ORPHA:2180
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Vacterl With Hydrocephalus	Microcornea, Anophthalmia, Microphthalmia	ORPHA:3412
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ...	ORPHA:238468
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Aplastic/hypoplastic toenail, Hypopigmented skin patches, Synophrys	ORPHA:1295
Papillon-Lefèvre Syndrome	Hypopigmented skin patches, Sparse body hair, Abnormal fingernail morphology, Hypertrichosis, Nai...	ORPHA:678
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma	OMIM:212550
Primary Ciliary Dyskinesia	Polysplenia, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchovascu...	ORPHA:244
Angelman Syndrome	Iris hypopigmentation, Keratoconus, Hypopigmentation of the skin, Fair hair, Astigmatism	ORPHA:72
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs, Abnormality of the diencephalon	ORPHA:2570
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Bruising s...	OMIM:277450
Severe Oculo-Renal-Cerebellar Syndrome	Cataract, Abnormality of retinal pigmentation, Hypopigmented skin patches	ORPHA:2715
Celiac Disease, Susceptibility To, 1	Alopecia, Decreased circulating IgA level, Macrocytic anemia, Iron deficiency anemia, Prolonged p...	OMIM:212750
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Reduced natural killer...	OMIM:603553
Aniridia 3	Cataract, Aniridia	OMIM:617142
Syndromic Diarrhea	Panhypogammaglobulinemia, Trichorrhexis nodosa, Lymphopenia, Thrombocytosis, Splenomegaly, Hypopl...	ORPHA:84064
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Dilated third ventricle, Lateral ventricle dilatation, Atelectasis, Tricuspid regurgitation, Sple...	OMIM:620371
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary, Primary amenorrhea	ORPHA:69085
Mismatch Repair Cancer Syndrome 1	Leukemia, Hypopigmentation of the skin, Multiple cafe-au-lait spots, Axillary freckling	OMIM:276300
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Morning Glory Disc Anomaly	Cataract, Abnormality of retinal pigmentation	ORPHA:35737
Bloom Syndrome	Decreased circulating IgG level, Hypopigmentation of the skin, Azoospermia, Decreased circulating...	ORPHA:125
Hemophilia B	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a...	OMIM:306900
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu...	ORPHA:79127
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Syncope, Abnormal...	ORPHA:60032
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Rothmund-Thomson Syndrome Type 1	Hypopigmentation of the skin, Aplastic anemia, Juvenile cataract, Anemia, Hyperpigmentation of th...	ORPHA:221008
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Lung adenocarcinoma, Protei...	OMIM:618913
Cholestasis-Lymphedema Syndrome	Abnormality of skin pigmentation	ORPHA:1414
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Increased proportion of exhausted T cells	OMIM:618307
Alg12-Cdg	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Strabismus, Abnorma...	ORPHA:79324
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Epistaxis, Abnormal bleeding, Prolonged prothrombin time	OMIM:610842
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular...	OMIM:106210
Hydranencephaly	Atrophic pituitary gland, Dysgenesis of the thalamus, Blindness, Thalamic edema, Antenatal intrac...	ORPHA:2177
Thrombocytopenia 2	Bruising susceptibility, Abnormal platelet volume, Leukocytosis, Abnormal platelet shape, Thrombo...	OMIM:188000
Joubert Syndrome 10	Molar tooth sign on MRI	OMIM:300804
Mosaic Trisomy 8	Hypopigmentation of the skin, Hypopigmented skin patches, Corneal opacity	ORPHA:96061
Hartnup Disease	Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2116
Cardiac-Urogenital Syndrome	Accessory spleen, Scimitar anomaly, Enlarged kidney, Penoscrotal hypospadias, Micropenis, Partial...	OMIM:618280
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ...	ORPHA:1969
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Intrahepa...	OMIM:214950
Holoprosencephaly	Abnormality of the spleen, Iris coloboma, Anophthalmia, Microphthalmia	ORPHA:2162
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Hypoplasia of the pons, Lymphopenia, Esodeviation, Reduced visual acuity,...	OMIM:619708
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Acrofrontofacionasal Dysostosis	Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow	ORPHA:1784
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:30391
Rothmund-Thomson Syndrome	Hypopigmentation of the skin, Aplastic anemia, Reticular hyperpigmentation, Juvenile cataract, An...	ORPHA:2909
Intellectual Developmental Disorder, Autosomal Recessive 78	Hypopigmentation of the skin	OMIM:620237
7Q11.23 Microduplication Syndrome	Unilateral renal agenesis, Hypospadias, Aplasia/hypoplasia of the uterus, Cryptorchidism, Hydrone...	ORPHA:96121
Incontinentia Pigmenti	Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged...	OMIM:308300
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology	ORPHA:2357
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoplasia of the pons, Cardiomyopathy, ...	ORPHA:88618
Harrod Syndrome	Cataract, Hypopigmented skin patches	ORPHA:2115
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis	OMIM:267450
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Recurrent bronchitis, Asplenia, Bronchiectasis, Absent outer dynein arms	OMIM:244400
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Aborted sudden cardiac death, Elevated circulating hepatic transaminase...	OMIM:614921
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle...	OMIM:614324
Rothmund-Thomson Syndrome Type 2	Hypopigmentation of the skin, Aplastic anemia, Juvenile cataract, Anemia, Hyperpigmentation of th...	ORPHA:221016
Hepatoerythropoietic Porphyria	Hypopigmentation of the skin, Erythroid hyperplasia, Splenomegaly, Keratoconjunctivitis, Hyperpig...	ORPHA:95159
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,...	ORPHA:367
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Increased circulating IgE level, Recurrent respiratory infections, Eosinophilia, Atelectasis	ORPHA:2314
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Acute hepatic failure, P...	OMIM:616483
Oeis Complex	Hydroureter, Vesicovaginal fistula, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, ...	OMIM:258040
Cerebrooculonasal Syndrome	Iris coloboma, Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level, Cafe-au-lait spot, Hypopigmented skin patches	ORPHA:457485
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Prolonged prothrombin time, Anemia,...	OMIM:267700
Proboscis Lateralis	Cataract, Microcornea, Anophthalmia, Corneal opacity, Microphthalmia, Iris coloboma, Optic nerve ...	ORPHA:141099
Wilson Disease	Aminoaciduria, Hepatic failure, Glycosuria, Acute hepatic failure, Face of the giant panda sign, ...	OMIM:277900
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Mixed hypo- and hyperpigmentation of the skin, Myeloproliferative diso...	ORPHA:79456
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Hypoplasia of the pons, Abnormal T-wave, Strabismus, Hypoplasia of ...	ORPHA:444072
Focal Dermal Hypoplasia	Hypopigmentation of the skin, Ectopia lentis, Aniridia, Linear hyperpigmentation, Reticular hyper...	OMIM:305600
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Abnorm...	ORPHA:51636
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Sensorineural...	ORPHA:163746
Liver Failure, Infantile, Transient	Decreased circulating IgG level, Elevated circulating hepatic transaminase concentration, Dicarbo...	OMIM:613070
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Pleural effusion,...	OMIM:617049
Hypocomplementemic Urticarial Vasculitis	Emphysema, Pleural effusion, Splenomegaly, Renal insufficiency, Hematuria, Proteinuria, Small ves...	ORPHA:36412
Acrofacial Dysostosis, Rodríguez Type	Abnormality of the uterus	ORPHA:1788
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections	ORPHA:3348
Craniolenticulosutural Dysplasia	Coarse hair, Hyperpigmentation of the skin, Abnormality of skin pigmentation, Brittle hair, Spars...	ORPHA:50814
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Chronic hepatitis, Neutrophilia, Myeloproliferative disorder, Pleural effusio...	ORPHA:3260
Netherton Syndrome	Aminoaciduria, Emphysema, Increased circulating IgE level, Hydronephrosis, Recurrent respiratory ...	ORPHA:634
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Joubert Syndrome 5	Nephronophthisis, Congenital blindness, Renal cortical cysts, Reduced renal corticomedullary diff...	OMIM:610188
Sarcoidosis, Susceptibility To, 1	Emphysema, Photophobia, Pancytopenia, Pleural effusion, Splenomegaly, Abnormality of T cell physi...	OMIM:181000
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Decreased circulating gonadotropin concentra...	ORPHA:98754
Meckel Syndrome, Type 10	Micropenis, Renal cyst, Hypospadias, Molar tooth sign on MRI	OMIM:614175
Dyskeratosis Congenita	Cataract, Bone marrow hypocellularity, Hypopigmented skin patches, White hair, Premature graying ...	ORPHA:1775
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Saccadic smooth pursuit, Lateral ventricle dilatation, Strabismus, Abnormal...	ORPHA:2822
Incontinentia Pigmenti	Cataract, Irregular hyperpigmentation, Keratitis, Hypopigmented skin patches, Eosinophilia, Corne...	ORPHA:464
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Recurrent upper respiratory tract infectio...	OMIM:614963
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Hypotension, Elevated circulating hepatic transaminase concentration, ...	ORPHA:20
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Atelectasis, Cardiomyopathy, Reduced left ventricular ejection fraction, Pontocerebellar atrophy,...	ORPHA:258
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Decreased circulating gonadotropin concentra...	ORPHA:98793
Dyskeratosis Congenita, Digenic	Alopecia, Nail dystrophy, Abnormality of skin pigmentation, Sparse eyelashes	OMIM:620040
Infantile Liver Failure Syndrome 3	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Splenomegaly, Pro...	OMIM:618641
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Hypopigmentation of the skin, Decreased circulating gonadotropin concentra...	ORPHA:177904
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Hypopigmentation of the skin, Decreased circulating gonadotropin concentra...	ORPHA:177901
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Glandular hypospadias, Penile hypospadias, Micropenis, Hypospadias	OMIM:300219
Trichohepatoenteric Syndrome 1	Splenomegaly, Generalized hypopigmentation, Thrombocytosis, Decreased circulating antibody level,...	OMIM:222470
Holoprosencephaly 7	Hypoplasia of the brainstem, Panhypopituitarism, Fusion of the left and right thalami, Agenesis o...	OMIM:610828
Yellow Fever	Acute kidney injury, Abnormal bleeding, Anuria, Shock, Elevated circulating aspartate aminotransf...	ORPHA:99829
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Anophthalmia, Microphthalmia	ORPHA:2538
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Elevated circulating hepatic transaminase concentration, Increa...	ORPHA:94093
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Male sexual dysfunction, Bifid scrotum, Female sexua...	ORPHA:322
Oculocerebrocutaneous Syndrome	Iris coloboma, Hypopigmented skin patches, Corneal opacity	ORPHA:1647
Abetalipoproteinemia	Color vision defect, Elevated circulating hepatic transaminase concentration, Abnormal bleeding, ...	ORPHA:14
Ruvalcaba Syndrome	Generalized hirsutism, Hypopigmented skin patches	ORPHA:3121
Craniopharyngioma	Slow decrease in visual acuity, Increased circulating prolactin concentration, Hypopituitarism, S...	ORPHA:54595
Sarcoidosis	Abnormal pleura morphology, Arrhythmia, Tubulointerstitial nephritis, Heart block, Pleural effusi...	ORPHA:797
Mhc Class I Deficiency 1	Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis	OMIM:604571
Schwannomatosis, Vestibular	Cataract, Inguinal freckling, Posterior subcapsular cataract, Lisch nodules, Juvenile posterior s...	OMIM:101000
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Macular hypoplasia, Leukocoria, Corneal opa...	ORPHA:91495
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Shwachman-Diamond Syndrome 2	Normocytic anemia, High myopia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia	OMIM:617941
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris...	ORPHA:177907
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatic failure, Elevated circulating hepatic transaminase concentra...	OMIM:276700
Mandibuloacral Dysplasia	Alopecia, Sparse hair, Abnormality of skin pigmentation, Hypoplastic fingernail	ORPHA:2457
Joubert Syndrome 8	Prolonged neonatal jaundice, Oculomotor apraxia, Molar tooth sign on MRI	OMIM:612291
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormality of the uterus, Cryptorchidism, Hydronephrosis, Abnormal fallopian tube morphology, Va...	ORPHA:1655
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Nephrotic syndrome, Hepatitis, Bronchitis, Emphysema, Jaundice, Bronchiectasis	ORPHA:60
Aromatase Deficiency	Female infertility, Male infertility, Generalized hirsutism, Primary amenorrhea, Hypergonadotropi...	ORPHA:91
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Macular hypoplasia...	OMIM:612109
Monosomy 13Q34	Hematochezia, Epistaxis, Horizontal eyebrow, Metrorrhagia, Prolonged prothrombin time	ORPHA:96168
Joubert Syndrome 17	Oculomotor apraxia, Molar tooth sign on MRI	OMIM:614615
Sialuria	Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Prolonged prothrombi...	ORPHA:3166
Ulnar-Mammary Syndrome	Renal hypoplasia, Abnormality of the uterus, Decreased fertility, Cryptorchidism, Hypoplasia of p...	ORPHA:3138
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Moderate albuminuria, Elevated circulating hepatic tran...	OMIM:619525
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
Waardenburg Syndrome Type 3	Atelectasis	ORPHA:896
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Death in childhood, Death in infancy, Neonatal death, Death in adolescence, Intraventricular hemo...	OMIM:619055
Duane Retraction Syndrome	Microcornea, Irregular hyperpigmentation, Hypopigmented skin patches, Central heterochromia, Opti...	ORPHA:233
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Pleural e...	ORPHA:199241
Orofaciodigital Syndrome Vi	Agenesis of corpus callosum, Esotropia, Hypothalamic hamartoma, Nystagmus, Molar tooth sign on MRI	OMIM:277170
Pagod Syndrome	Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphology of female internal g...	ORPHA:991
Thrombocytopenia-Absent Radius Syndrome	Horseshoe kidney, Ureteral duplication, Vesicoureteral reflux, Aplasia of the uterus	OMIM:274000
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Excessive bleeding after a venipuncture, Incr...	ORPHA:99826
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Fasting hyperins...	ORPHA:71212
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto...	OMIM:185000
Oculocerebrorenal Syndrome Of Lowe	Proximal renal tubular acidosis, Aminoaciduria, Nephrocalcinosis, Abnormal circulating calcium-ph...	ORPHA:534
Granulomatous Disease, Chronic, X-Linked	Recurrent pneumonia, Atelectasis, Impaired oxidative burst, Pleural effusion, Splenomegaly, Granu...	OMIM:306400
Combined Oxidative Phosphorylation Deficiency 37	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	OMIM:618329
Localized Scleroderma	Hypopigmented skin patches, Abnormal skin adnexa morphology, Vitiligo, Patchy alopecia, Hyperpigm...	ORPHA:90289
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Fine hair, White hair, Lymphopenia, Agammaglobulinemia, Anemia	ORPHA:935
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Secondary amenorrhea, Female infertility, Abnormal fingernail morphology, Hyperconvex f...	ORPHA:99413
Mosaic Monosomy X	Alopecia, Secondary amenorrhea, Female infertility, Abnormal fingernail morphology, Hyperconvex f...	ORPHA:99228
Monosomy X	Alopecia, Secondary amenorrhea, Female infertility, Abnormal fingernail morphology, Hyperconvex f...	ORPHA:99226
Turner Syndrome	Alopecia, Secondary amenorrhea, Female infertility, Abnormal fingernail morphology, Hyperconvex f...	ORPHA:881
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Ketonuria, Methylmalonic aciduri...	ORPHA:79282
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Strabismus, Tricuspid regurgitation, Agenesis of corpus callosum, Micropenis, Interhypothalamic a...	OMIM:618929
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Hypopigmentation of hair, Anemia, Ocular albinism	ORPHA:2719
Prader-Willi Syndrome	Hypopigmentation of the skin, Decreased circulating gonadotropin concentration, Hypogonadism, Dec...	ORPHA:739
Koolen-De Vries Syndrome	Abnormality of hair texture, Hypopigmentation of hair, Overfriendliness	ORPHA:96169
Microphthalmia, Syndromic 2	Microcornea, Anophthalmia, Developmental cataract, Microphthalmia, Iris coloboma	OMIM:300166
Mucolipidosis Ii Alpha/Beta	Hypopigmentation of the skin, Splenomegaly, Opacification of the corneal stroma, Megalocornea	OMIM:252500
Chromomycosis	Keratoconjunctivitis sicca, Keratitis, Hypopigmented skin patches	ORPHA:182
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Cohen Syndrome	Aplasia/Hypoplasia of the earlobes, Long eyelashes, Thick eyebrow, Abnormality of retinal pigment...	ORPHA:193
Gapo Syndrome	Sparse eyebrow, Alopecia, Hypopigmented skin patches, Sparse eyelashes, Early balding	ORPHA:2067
Joubert Syndrome 21	Splenomegaly, Anophthalmia	OMIM:615636
Rothmund-Thomson Syndrome, Type 3	Spotty hypopigmentation, Anemia, Spotty hyperpigmentation, Anisopoikilocytosis	OMIM:615789
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Gastrointestinal hemorrhage, Elevated circulating hepat...	ORPHA:247598
Digeorge Syndrome	Unilateral renal agenesis, Recurrent pneumonia, Atelectasis, Impaired T cell function, Accommodat...	OMIM:188400
Orofaciodigital Syndrome Xvi	Oculomotor apraxia, Molar tooth sign on MRI	OMIM:617563
Hennekam-Beemer Syndrome	Irregular hyperpigmentation, Conductive hearing impairment, Hearing impairment, Generalized hyper...	ORPHA:2135
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatosplenomegaly, Hypopigmentation of the skin, Myopic astigmatism	OMIM:301066
Mosaic Trisomy 9	Hypoplastic female external genitalia, Abnormality of the uterus, Horseshoe kidney, Cryptorchidis...	ORPHA:99776
Classical Ehlers-Danlos Syndrome	Bruising susceptibility, Arterial rupture, Mitral regurgitation, Abnormal heart valve physiology,...	ORPHA:287
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, Vitiligo, T lymphocytopenia, Neutropenia, Autoimmune thrombocytopenia, Hypermelanoti...	OMIM:607944
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Fanconi Anemia	Cataract, Irregular hyperpigmentation, Hypopigmented skin patches, Azoospermia, Leukopenia, Micro...	ORPHA:84
Brittle Cornea Syndrome	Bruising susceptibility, Abnormality of hair pigmentation	ORPHA:90354
22Q11.2 Deletion Syndrome	Hypertensive crisis, Gastrointestinal hemorrhage, Hypospadias, Abnormality of thrombocytes, Renal...	ORPHA:567
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Pancytopenia, Hemosiderinuria, Jaundice, Acute kidney injury, Increased c...	ORPHA:447
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Abnormal urinary color, Emphysema, Pulmona...	ORPHA:538
Fabry Disease	Nephropathy, Atrioventricular block, Congestive heart failure, Emphysema, Hypertrophic cardiomyop...	ORPHA:324
Orofaciodigital Syndrome Type 6	Esotropia, Hypothalamic hamartoma, Molar tooth sign on MRI, Nystagmus	ORPHA:2754
Degcags Syndrome	Hypopigmentation of the skin, Premature graying of hair, Hepatosplenomegaly, Pancytopenia, Leukop...	OMIM:619488
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Increased circulating lactate dehydrogenase concentration, Oligosacchariduria, Atelec...	ORPHA:365
Tetragametic Chimerism	Blood group antigen abnormality, Hypopigmented skin patches	ORPHA:199310
Xeroderma Pigmentosum	Cataract, Keratitis, Hypopigmented skin patches, Pterygium, Melanocytic nevus, Opacification of t...	ORPHA:910
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse pubic hair, Sparse eyebrow, Fair hair, Facial hirsutism, Nail dystrophy, Sparse eyelashes,...	OMIM:604292
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Multiple bladder div...	OMIM:613177
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Telangiectasia, Hematuria, Retinal telangiectasia, Gastrointestinal ...	ORPHA:774
Ablepharon Macrostomia Syndrome	Hearing impairment, Fine hair, Atresia of the external auditory canal, Breast hypoplasia, Absent ...	ORPHA:920
Eec Syndrome	Sparse eyebrow, Coarse hair, Fine hair, Thick eyebrow, Nail dystrophy, Generalized hypopigmentati...	ORPHA:1896
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Bruising susceptibility, Emphysema, Arteri...	OMIM:130050
Alpha-2-Plasmin Inhibitor Deficiency	Persistent bleeding after trauma, Joint hemorrhage, Hemothorax, Bruising susceptibility	OMIM:262850
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Recurrent upper respiratory tract infections, Elevated circulating ...	ORPHA:293987
Fraser Syndrome 1	Anophthalmia, Bilateral microphthalmos, Corneal opacity	OMIM:219000
Neurofibromatosis Type 1	Chronic myelogenous leukemia, Inguinal freckling, Cataract, Hypopigmented skin patches, Melanocyt...	ORPHA:636
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Anemia, Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:2637
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery st...	OMIM:615067
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie...	OMIM:187300
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse pubic hair, Sparse eyebrow, Fair hair, Sparse eyelashes, Nail dysplasia, Hypoplastic nippl...	OMIM:129900
Charge Syndrome	Iris coloboma, Anophthalmia, Microphthalmia	ORPHA:138
Hypermethioninemia Due To Adenosine Kinase Deficiency	Pulmonic stenosis, Elevated circulating alanine aminotransferase concentration, Prolonged prothro...	OMIM:614300
Cystinosis, Nephropathic	Pigmentary retinopathy, Hypopigmentation of the skin, Corneal crystals, Retinal pigment epithelia...	OMIM:219800
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Symblepharon, Hypopigmentation of the skin, Keratitis, Chemosis, Conjunctival hyperemia, Hyperpig...	ORPHA:95455
Coffin-Siris Syndrome 1	Renal hypoplasia, Clitoral hypertrophy, Hydroureter, Cryptorchidism, Hydronephrosis, Aplasia of t...	OMIM:135900
Branchiooculofacial Syndrome	Cataract, Premature graying of hair, White forelock, Anophthalmia, Microphthalmia, Iris coloboma	OMIM:113620
Primary Sclerosing Cholangitis	Spider hemangioma, Elevated circulating hepatic transaminase concentration, Hepatitis, Palmar tel...	ORPHA:171
Meckel Syndrome, Type 4	Renal cyst, Molar tooth sign on MRI	OMIM:611134
Koolen-De Vries Syndrome Due To A Point Mutation	Hypopigmentation of the skin, Fair hair, Vitiligo, Developmental cataract, Cafe-au-lait spot	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypopigmentation of the skin, Fair hair, Vitiligo, Developmental cataract, Cafe-au-lait spot	ORPHA:363958
Meckel Syndrome, Type 1	Accessory spleen, Rotary nystagmus, Abnormality of the ureter, Splenomegaly, Agenesis of corpus c...	OMIM:249000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Cataract, Hypopigmentation of the skin, Melanocytic nevus, Juvenile cataract, Abnormality of skin...	OMIM:619475
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Bruising susceptibility, Atelectasis, Myopia, Repeated pneumothoraces, Pulmonary hypoplasia	ORPHA:536467
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Unilateral renal agenesis, Lateral ventricle dilatation, Strabis...	ORPHA:500150
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Charge Syndrome	Cataract, Lymphopenia, Unilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma	OMIM:214800
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Overfolded helix, Hypopigmentation of hair, Posteriorly rotated ears, Wido...	ORPHA:1974
Short-Rib Thoracic Dysplasia 12	Renal hypoplasia, Atelectasis, Splenomegaly, Cystic renal dysplasia, Pulmonary hypoplasia	OMIM:269860
Holoprosencephaly 9	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610829
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hypoplasia of the brainstem, Molar tooth sign on MRI, Micropenis, Polycystic kidney dysplasia, Pu...	OMIM:616546
Pallister-Hall Syndrome	Precocious puberty, Unilateral renal agenesis, Small scrotum, Aplasia/Hypoplasia of the vagina, A...	ORPHA:672
Ellis Van Creveld Syndrome	Acute leukemia, Hydroureter, Strabismus, Emphysema, Abnormality of the ureter, Aplasia/Hypoplasia...	ORPHA:289
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Lateral ventricle dilatation, Molar tooth sign on MRI, Micropenis, Hypospa...	OMIM:619479
Acute Liver Failure	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormal bl...	ORPHA:90062
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Polycythemia, Hypertrophic cardiomyopath...	ORPHA:309854
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal cyst, Renal hypoplasia, Molar tooth sign on MRI, Pulmonary hypoplasia	OMIM:616300
Wolf-Hirschhorn Syndrome	Precocious puberty, Aplasia of the uterus, Hypospadias, Cryptorchidism	OMIM:194190
Familial Tumoral Calcinosis	Splenomegaly, Hypopigmented skin patches	ORPHA:53715
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia, Hypopigmented skin patches	ORPHA:183
Adrenomyeloneuropathy	Abnormality of skin pigmentation, Fine hair, Frontal balding, Lip hyperpigmentation	ORPHA:139399
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes	OMIM:609136
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Epistaxis, Nephrocalcinosis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding follo...	ORPHA:79259
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias	OMIM:276820
Joubert Syndrome 39	Oculomotor apraxia, Polycystic kidney dysplasia, Molar tooth sign on MRI	OMIM:619562
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Recurrent pneumonia, Atrioventricular block, Right ve...	ORPHA:1329
Fanconi Anemia, Complementation Group A	Cafe-au-lait spot, Hearing impairment, Abnormality of skin pigmentation	OMIM:227650
Prader-Willi Syndrome	Frontal upsweep of hair, Generalized hypopigmentation	OMIM:176270
Infantile Krabbe Disease	Hypopigmented skin patches	ORPHA:206436
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency, Abnormality of the diencephalon	ORPHA:2165
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Emphysema, Pan...	OMIM:613658
Hereditary Acrokeratotic Poikiloderma	Irregular hyperpigmentation, Dystrophic toenail, Hypopigmented skin patches, Nail dystrophy, Dyst...	ORPHA:2907
Cutis Laxa, Autosomal Recessive, Type Ia	Aortic regurgitation, Peripheral pulmonary artery stenosis, Emphysema, Supravalvular aortic steno...	OMIM:219100
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Generalized aminoaciduria, Elevated circulating hepatic transaminase concentration, Splenomegaly,...	ORPHA:404454
Microphthalmia With Limb Anomalies	True anophthalmia, Microphthalmia	ORPHA:1106
Menkes Disease	Sparse hair, Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Hypopig...	ORPHA:565
Cerebellofaciodental Syndrome	Hypoplasia of the pons, Hypoplasia of the midbrain, Strabismus	OMIM:616202
Marfan Syndrome	Aortic regurgitation, Pulmonary artery dilatation, Strabismus, Emphysema, Tricuspid regurgitation...	OMIM:154700
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em...	ORPHA:95430
Williams Syndrome	Strabismus, Mitral regurgitation, Abnormality of the diencephalon, Visual impairment, Atrophy/Deg...	ORPHA:904
Relapsing Polychondritis	Hepatitis, Atelectasis, Large vessel vasculitis, Renal insufficiency, Hematuria, Proteinuria, Myo...	ORPHA:728
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Oroticaciduria, Elevated circulating aspartate aminotransferase concentration, Reduced hepatic or...	OMIM:311250
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Multiple bladder diverticula, Urethral...	ORPHA:90349
Mend Syndrome	Spotty hypopigmentation, Macular hypoplasia, Anterior polar cataract, Cataract	OMIM:300960
Fraser Syndrome	Anophthalmia, Microphthalmia	ORPHA:2052
Loeys-Dietz Syndrome 4	Emphysema, Pneumothorax, Bruising susceptibility	OMIM:614816
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Generalized hypopigmentation, Optic nerve hypoplasia	OMIM:619321
Meier-Gorlin Syndrome 6	Decreased response to growth hormone stimulation test, Recurrent respiratory infections, Emphysem...	OMIM:616835
Kindler Syndrome	Spotty hypopigmentation, Symblepharon, Spotty hyperpigmentation, Corneal erosion	OMIM:173650
Mosaic Trisomy 20	Hypopigmented streaks, Depigmentation/hyperpigmentation of skin	ORPHA:1724
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Congestive heart failure, Emphysema, Mitral regurgitation, Abnormality of ...	ORPHA:363618
X-Linked Intellectual Disability, Nascimento Type	Abnormal hair whorl, Lumbar hypertrichosis, Nail dystrophy, Low posterior hairline, Generalized h...	ORPHA:163956
Mend Syndrome	Spotty hypopigmentation, Cataract, Microphthalmia	ORPHA:401973
Cowden Syndrome	Cataract, Hypopigmented skin patches, Melanocytic nevus, Conjunctival hamartoma, Multiple cafe-au...	ORPHA:201
Hughes-Stovin Syndrome	Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Amaurosis fugax, Pulmonary arterial hy...	ORPHA:228116
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Cafe-au-lait s...	OMIM:210720
Meier-Gorlin Syndrome 4	Emphysema	OMIM:613804
Pitt-Hopkins Syndrome	Astigmatism, Hypopigmented skin patches	ORPHA:2896
Neonatal Marfan Syndrome	Emphysema, Tricuspid regurgitation, High myopia, Mitral regurgitation, Heart murmur	ORPHA:284979
Ring Chromosome 13 Syndrome	Alopecia, Abnormality of skin pigmentation, Posteriorly rotated ears, Macrotia, Cafe-au-lait spot	ORPHA:96176
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Bronchioli...	ORPHA:90348
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Ring Chromosome 7 Syndrome	Highly arched eyebrow, Prominent crus of helix, Low anterior hairline, Abnormality of skin pigmen...	ORPHA:1449
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ...	OMIM:123700
Systemic Sclerosis	Spotty hypopigmentation, Alopecia, Irregular hyperpigmentation, Nail bed telangiectasia	ORPHA:90291
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Meier-Gorlin Syndrome 1	Emphysema, Micropenis, Strabismus	OMIM:224690
Nocardiosis	Pneumonia, Emphysema, Scotoma, Pleural effusion, Pneumothorax, Pleuritis, Pericarditis	ORPHA:31204
Marfan Syndrome	Aortic regurgitation, Spontaneous pneumothorax, Pulmonary artery dilatation, Congestive heart fai...	ORPHA:558
Orofaciodigital Syndrome Type 14	Partial agenesis of the corpus callosum, Dilated third ventricle, Molar tooth sign on MRI, Epispa...	ORPHA:434179
Pallister-Killian Syndrome	Small scrotum, Cryptorchidism, Renal cyst, Hypoplastic labia majora, Aplasia of the uterus, Aplas...	OMIM:601803
Viss Syndrome	Pulmonary artery aneurysm, Bruising susceptibility, Emphysema, Increased circulating IgE level, D...	OMIM:619472
Atypical Werner Syndrome	Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h...	ORPHA:79474
Microphthalmia, Syndromic 1	Microcornea, Ciliary body coloboma, Anophthalmia, Microphthalmia, Iris coloboma	OMIM:309800
Townes-Brocks Syndrome	Renal hypoplasia, Rectovaginal fistula, Abnormal vagina morphology, Abnormality of the uterus, Bi...	ORPHA:857
Hydrolethalus Syndrome 1	Hydronephrosis, Bifid uterus, Hypospadias, Abnormal vagina morphology	OMIM:236680
Sotos Syndrome	Cataract, Hypopigmentation of the skin, Astigmatism, Hyperpigmentation of the skin, Acute lymphob...	ORPHA:821
Townes-Brocks Syndrome 1	Renal hypoplasia, Multicystic kidney dysplasia, Rectovaginal fistula, Bifid scrotum, Vesicoureter...	OMIM:107480
Proteus Syndrome	Pulmonary cyst, Long penis, Thymus hyperplasia, Bronchogenic cyst, Pulmonary embolism, Abnormal l...	ORPHA:744
Smith-Lemli-Opitz Syndrome	Abnormal eyelash morphology, Hypopigmentation of hair	ORPHA:818
Okamoto Syndrome	Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Hydronephrosis, Urinary incontin...	ORPHA:2729
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Orofaciodigital Syndrome Xiv	Unilateral renal hypoplasia, Molar tooth sign on MRI, Micropenis, Partial agenesis of the corpus ...	OMIM:615948
Chand Syndrome	Hydroureter, Atelectasis	ORPHA:1401
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Tricuspid regurgitation, Pulmo...	OMIM:614437
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Abnormality of the uterus, Vesicoureteral reflux, Renal insufficien...	ORPHA:199
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Synophrys, Patchy hypo- and hyperpigmentation	ORPHA:3063
Craniofacial Microsomia 1	Limbal dermoid, Anophthalmia, Microphthalmia	OMIM:164210
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti...	OMIM:245150
Neu-Laxova Syndrome 1	Bifid uterus, Cryptorchidism	OMIM:256520
Norrie Disease	Erectile dysfunction, Uterine rupture, Cryptorchidism	ORPHA:649
Multiple Osteochondromas	Pneumothorax, Hemothorax, Urinary retention	ORPHA:321
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Bladder diverticulum, Renovascular ...	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

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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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