| Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
| Epidermolysis Bullosa Simplex 2C, Localized |
|
Onychomadesis, Dystrophic toenail |
OMIM:619594 |
| Localized Dystrophic Epidermolysis Bullosa, Nails Only |
|
Onychogryposis of toenails, Onychogryposis, Dystrophic fingernails, Fragile nails, Nail dystrophy... |
ORPHA:158676 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:619755 |
| Pili Gemini |
|
Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1... |
ORPHA:79492 |
| Mammary-Digital-Nail Syndrome |
|
Anonychia, Nail dystrophy, Nail dysplasia |
OMIM:613689 |
| Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
| Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
| Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
| Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
| Nail Disorder, Nonsyndromic Congenital, 8 |
|
Dystrophic toenail |
OMIM:607523 |
| Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Ectodermal Dysplasia 5, Hair/Nail Type |
|
Sparse scalp hair, Dystrophic fingernails, Absent toenail |
OMIM:614927 |
| Epidermolysis Bullosa Simplex 3, Localized Or Generalized Intermediate, With Bp230 Deficiency |
|
Nail dystrophy, Dystrophic toenail |
OMIM:615425 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Epidermolysis Bullosa Pruriginosa |
|
Nail dystrophy, Nail dysplasia |
OMIM:604129 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Nail Disorder, Nonsyndromic Congenital, 6 |
|
Anonychia, Nail dystrophy, Nail dysplasia |
OMIM:107000 |
| Pachyonychia Congenita 4 |
|
Nail dystrophy |
OMIM:615728 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
| Epidermolysis Bullosa Dystrophica, Autosomal Dominant |
|
Nail dystrophy, Nail dysplasia |
OMIM:131750 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Decreased circulating luteinizing hormone level |
OMIM:202150 |
| Epidermolysis Bullosa Dystrophica Neurotrophica |
|
Nail dystrophy, Nail dysplasia |
OMIM:226500 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Onychogryposis, Nail dystrophy, Nail dysplasia, Hypoplastic fifth toenail |
OMIM:131960 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
| Transient Bullous Dermolysis Of The Newborn |
|
Nail dystrophy |
OMIM:131705 |
| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Epidermolysis Bullosa Simplex 1B, Generalized Intermediate |
|
Nail dystrophy |
OMIM:131900 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
| Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
| Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy |
OMIM:271220 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Scarring alopecia of scalp, Dystrophic fingernails, Nail dystrophy |
OMIM:619787 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Nail dystrophy |
ORPHA:79503 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Nail dystrophy |
OMIM:132000 |
| Epidermolysis Bullosa Simplex 1A, Generalized Severe |
|
Nail dystrophy, Palmoplantar hyperkeratosis |
OMIM:131760 |
| Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic m... |
ORPHA:79397 |
| Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
| Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope... |
OMIM:619816 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
| Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Spo... |
ORPHA:79399 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Decreased ci... |
OMIM:616030 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
| Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
| Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa |
|
Recurrent loss of toenails and fingernails, Nail dystrophy, Absent fingernail, Dystrophic fingern... |
ORPHA:231568 |
| Ectodermal Dysplasia 8, Hair/Tooth/Nail Type |
|
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Dystrophic fing... |
OMIM:602401 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp... |
OMIM:617294 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
| Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation |
OMIM:620199 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Nail dysplasia |
OMIM:212360 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair, Cafe-au... |
OMIM:618625 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
| Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Palmoplantar hyperker... |
ORPHA:89838 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... |
OMIM:224750 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Nail Disorder, Nonsyndromic Congenital, 3 |
|
Abnormal hair morphology, Leukonychia, Concave nail |
OMIM:151600 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Abnormality of skin pigmentation, Palmoplantar keratoderma, Nail dyst... |
ORPHA:79402 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
| Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
| Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
| Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... |
OMIM:616950 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Sensorineural hearing impairment, Fine hair, Hypogonadism, Pili torti, Ab... |
ORPHA:202 |
| Nonaka Myopathy |
|
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
| Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na... |
ORPHA:79153 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... |
OMIM:601952 |
| Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
| Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
| Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
| Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Short nail, Thin nail, Sparse e... |
OMIM:257980 |
| Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Decreased circulating luteinizing hormone level, Decreased circulating follicle s... |
OMIM:614897 |
| Cooks Syndrome |
|
Abnormal toenail morphology, Dystrophic fingernails, Dystrophic toenail, Aplastic/hypoplastic toe... |
ORPHA:1487 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
| Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Cheilitis, Chronic oral candidiasis, Onychomycosis, Blepharitis |
OMIM:615527 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Failure to thrive, Decreased proportion of naive T... |
ORPHA:276 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hyperpigmentation, Generalized hirsutism |
ORPHA:2297 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderm... |
OMIM:148700 |
| Psoriasis 15, Pustular, Susceptibility To |
|
Nail dystrophy |
OMIM:616106 |
| Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... |
ORPHA:69125 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
| Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Porokeratosis 3, Multiple Types |
|
Nail dystrophy |
OMIM:175900 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
| Epidermolysis Bullosa Acquisita |
|
Abnormal hair morphology, Nail dystrophy, Hyperpigmentation of the skin |
ORPHA:46487 |
| Dermatopathia Pigmentosa Reticularis |
|
Alopecia of scalp, Nail dystrophy, Reticular hyperpigmentation, Palmoplantar hyperkeratosis |
OMIM:125595 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Nail dystrophy |
OMIM:618806 |
| Localized Epidermolysis Bullosa Simplex |
|
Plantar hyperkeratosis, Mixed hypo- and hyperpigmentation of the skin, Focal friction-related pal... |
ORPHA:79400 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... |
OMIM:181400 |
| Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy |
ORPHA:89843 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
| Flotch Syndrome |
|
Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat... |
ORPHA:2045 |
| Basan Syndrome |
|
Palmoplantar keratoderma, Nail dystrophy, Hypermelanotic macule |
OMIM:129200 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair, Hypogonadism, Sensorineural hearing impairment |
ORPHA:123 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
ORPHA:169154 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
| Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... |
OMIM:108420 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair, Cutaneous photosensitivity |
OMIM:234030 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis |
ORPHA:53697 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... |
OMIM:212050 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Odontomicronychial Dysplasia |
|
Slow-growing nails, Thin nail, Short nail, Abnormality of the nail |
ORPHA:1811 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Absent specific antibody response, Autoimmune hemolytic anemia, Sever... |
OMIM:102700 |
| Vernal Keratoconjunctivitis |
|
Abnormal cornea morphology, Abnormal conjunctiva morphology, Corneal neovascularization, Punctate... |
ORPHA:70476 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... |
ORPHA:453533 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Absent thumbnail, Nail dystrophy, Small nail, Absent fifth fingernail, Absent toenail |
OMIM:124480 |
| Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Hooft Disease |
|
Leukonychia |
OMIM:236300 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
| Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... |
OMIM:129500 |
| Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Nail dystrophy, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:167200 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Sparse hair, Pili torti |
OMIM:607903 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair, Alope... |
OMIM:604536 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hype... |
ORPHA:79395 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Folliculitis, Conjunctivitis, Ble... |
OMIM:308800 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... |
OMIM:615513 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Odontomicronychial Dysplasia |
|
Slow-growing nails, Thin nail, Short nail |
OMIM:601319 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... |
OMIM:619042 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... |
OMIM:606843 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Woolly hair... |
OMIM:615821 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Absent eyelashes, Dry skin, Ec... |
ORPHA:2890 |
| Dyschromatosis Universalis Hereditaria |
|
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... |
ORPHA:241 |
| Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy |
OMIM:619692 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Orthok... |
OMIM:614594 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
| Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis |
ORPHA:1366 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Eosinophilia, Myeloproliferative disorder, Hepatomegaly |
OMIM:607685 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
| Heimler Syndrome 2 |
|
Beau's lines, Leukonychia |
OMIM:616617 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
| Atrophoderma Vermiculata |
|
Leukonychia |
OMIM:209700 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos... |
ORPHA:66661 |
| Uv-Sensitive Syndrome 2 |
|
Freckling |
OMIM:614621 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
| Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis |
ORPHA:157991 |
| Immunodeficiency 104 |
|
Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
| Bazex Syndrome |
|
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Lip hyperp... |
ORPHA:166113 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Hair-nail ectodermal dysplasia, Abno... |
OMIM:614929 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... |
OMIM:608099 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
| Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, Nail dystr... |
ORPHA:158681 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... |
ORPHA:266 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Failure to thrive, Impaired T cell function, Pure red cell aplasia, ... |
OMIM:613179 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... |
OMIM:228300 |
| Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, N... |
ORPHA:79151 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
| Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges |
|
Anonychia, Nail dystrophy, Nail dysplasia |
OMIM:106995 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
| Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral |
|
Short nail |
ORPHA:973 |
| Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Sensorineural hearing impairment, Coarse hair, Hypogonadism, Ha... |
OMIM:262000 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Diabetes mellitus, Dysmenorrhea, Maternal diabetes,... |
ORPHA:79083 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:242300 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Folliculitis, Conjunctivitis, Blepharitis |
OMIM:612843 |
| Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Increased circul... |
OMIM:202700 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Peeling Skin Syndrome 4 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy |
OMIM:607936 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
| Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
| Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... |
OMIM:615842 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dystrophy, O... |
OMIM:617337 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Scarring alopecia of scalp, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Anemia |
OMIM:226670 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Optic nerve hypopl... |
OMIM:300953 |
| Neuropathy, Hereditary Sensory, Type Id |
|
Nail dystrophy |
OMIM:613708 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
| Poikiloderma With Neutropenia |
|
Skin rash, Elevated circulating creatine kinase concentration, Edema, Sparse eyebrow, Recurrent b... |
OMIM:604173 |
| Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... |
ORPHA:331206 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Ectodermal dysplasia, Thin eyebrow |
OMIM:617392 |
| Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
| Junctional Epidermolysis Bullosa Inversa |
|
Anonychia, Nail dystrophy, Anemia, Palmoplantar keratoderma |
ORPHA:79405 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
| Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
| Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... |
ORPHA:2309 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of the subungual region, Abnormality of skin pigmentation, Palmoplantar keratoderma, ... |
ORPHA:79411 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308700 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
| Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Low-set, posteriorly rotated ears, Brittle hair, Prematurely... |
ORPHA:2963 |
| Parana Hard Skin Syndrome |
|
Hyperkeratosis, Generalized hyperpigmentation, Generalized hirsutism |
ORPHA:2812 |
| Isolated Congenital Digital Clubbing |
|
Hyperconvex nail, Broad nail, Nail dysplasia, Dystrophic fingernails, Onychogryposis |
ORPHA:217059 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:603909 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Anonychia, Nail dystrophy, Palmoplantar keratoderma |
OMIM:616029 |
| Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
| Bart-Pumphrey Syndrome |
|
Leukonychia |
OMIM:149200 |
| Lichen Planus Pemphigoides |
|
Conjunctivitis, Blepharitis |
ORPHA:254478 |
| Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Seco... |
ORPHA:2348 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Nail dystrophy, Small nail |
OMIM:181600 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Anonychia, Nail dystrophy, Anemia, Palmoplantar keratoderma |
ORPHA:79406 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
| Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe... |
OMIM:618261 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... |
OMIM:616099 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Lymphoproliferative disorder, Severe varicella zoster infection, Splenomegaly, Recu... |
OMIM:615122 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Myelodysplasia |
OMIM:162830 |
| Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, F... |
ORPHA:169160 |
| Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Bilateral sensorineural hearing impairment, Tiger tail banding, ... |
OMIM:616943 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnorma... |
OMIM:226990 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar hyperkeratosi... |
OMIM:167210 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Sensorineural hearing impairment, Coarse hair, Sparse hair, Hidrotic ectodermal dys... |
ORPHA:1883 |
| Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... |
OMIM:619178 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc... |
OMIM:615387 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
| Lelis Syndrome |
|
Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Palmoplantar hyperkeratosis, Na... |
ORPHA:140936 |
| Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Th... |
ORPHA:39041 |
| Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Ifap Syndrome 2 |
|
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca |
OMIM:619016 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss, B-cell lymphoma, Lymphadenopathy |
ORPHA:52416 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Olmsted Syndrome, X-Linked |
|
Posterior blepharitis, Blepharitis |
OMIM:300918 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
| Congenital Myopathy 18 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... |
OMIM:620246 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:1802 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Atypical or prolong... |
ORPHA:83471 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Optic atrophy, Decreas... |
OMIM:234050 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Onychauxis, Abnormal hair morphology, Hyperconvex toenail, Hyperconvex fingernails, Nail dystroph... |
ORPHA:319195 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Bathing Suit Ichthyosis |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair |
ORPHA:100976 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eosinophilia, Autoimmune thrombocytope... |
ORPHA:911 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Pili torti, Fine hair |
ORPHA:1573 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Psoriasiform dermatitis, Blepharitis, Developmental cataract |
OMIM:616834 |
| Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Cryptorchidism, Elevated circulating follicle st... |
OMIM:620103 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy |
OMIM:618982 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
| Sézary Syndrome |
|
Alopecia, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Nail dystrophy, Irregular hype... |
ORPHA:3162 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
| Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... |
ORPHA:251393 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormal fingernail morphology, Hyperkeratotic papule, Palmoplantar keratoderma, Nail dystrophy, ... |
ORPHA:79410 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Hypermelanotic macule, Multinodular goiter, Palmoplantar keratoderma, Hypomelanotic mac... |
OMIM:618373 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300717 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615269 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Redu... |
OMIM:300400 |
| Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant... |
OMIM:605676 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Entropion, Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Corne... |
OMIM:278730 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Alopecia, Dysgammaglobulinemia, Splenomegaly, Lymphoma, Hypocalcemia, Ascites |
ORPHA:100025 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
| Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... |
OMIM:254130 |
| Split-Hand/Foot Malformation 3 |
|
Ridged nail, Nail dystrophy, Nail dysplasia |
OMIM:246560 |
| Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Hyperpigmentation in sun-exposed areas, Reticulated skin pigmentation, ... |
ORPHA:69087 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatitis, ... |
OMIM:304790 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Blepharitis |
OMIM:602400 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Incr... |
ORPHA:3261 |
| Peeling Skin Syndrome 1 |
|
Brittle hair, Eosinophilia, Onycholysis, Scaling skin, Nail dystrophy |
OMIM:270300 |
| Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Plantar hyperkeratosis, Hyperconvex nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic p... |
ORPHA:495 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... |
OMIM:253700 |
| Heimler Syndrome 1 |
|
Beau's lines, Leukonychia |
OMIM:234580 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Leukonychia, Palmoplantar hyperkeratosis |
ORPHA:2698 |
| Hypertrichosis Lanuginosa Congenita |
|
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow |
ORPHA:2222 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus |
OMIM:616622 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... |
ORPHA:83469 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
| Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:616471 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... |
OMIM:612937 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Abnormal lymph node morphology |
OMIM:136580 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Nail dystrophy |
OMIM:609057 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis |
OMIM:615225 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Failure to thrive, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proporti... |
OMIM:619824 |
| Roifman Syndrome |
|
Hypogonadotropic hypogonadism, Eosinophilia, Hyperconvex nail, Prominent eyelashes, Lymphadenopat... |
ORPHA:353298 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... |
ORPHA:457050 |
| Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... |
ORPHA:277 |
| Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, T lymphocytopenia, Decreased... |
OMIM:300755 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
| Acrokeratosis Verruciformis |
|
Ridged nail, Punctate palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:101900 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Nail dystrophy, Nail dysplasia |
OMIM:226700 |
| Omenn Syndrome |
|
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L... |
OMIM:603554 |
| Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomeg... |
ORPHA:2930 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... |
OMIM:619126 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300718 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... |
OMIM:620068 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Thin ski... |
ORPHA:2985 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density |
ORPHA:970 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
| Acrofacial Dysostosis, Weyers Type |
|
Abnormal fingernail morphology, Hypoplastic toenails, Nail dystrophy, Small nail, Abnormal toenai... |
ORPHA:952 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt... |
OMIM:614470 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge... |
OMIM:615559 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... |
OMIM:619473 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrophic fingernails... |
ORPHA:1882 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly... |
ORPHA:98849 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation |
OMIM:300719 |
| Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Sepsis, Recurrent cutaneous fungal infections, Recurren... |
ORPHA:477 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... |
OMIM:611926 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Hematological neoplasm, Porta... |
ORPHA:824 |
| Monosomy 22 |
|
Aplasia of the thymus, Schwannoma, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, ... |
ORPHA:96123 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
| Menkes Disease |
|
Alopecia, Brittle hair, Hypsarrhythmia, Cutis laxa, Sparse hair |
OMIM:309400 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Squamous cell carcinoma, Increased circulating IgG... |
OMIM:243700 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Thyroiditis, Uveitis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization |
OMIM:617388 |
| Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
| Juvenile Xanthogranuloma |
|
Hyphema, Uveitis, Asymmetry of iris pigmentation, Iritis, Blepharitis |
ORPHA:158000 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Parakeratosis, Neutrophilia, Nail dystrophy |
OMIM:614204 |
| Familial Expansile Osteolysis |
|
Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Cryptorchidism, Spotty hypopigmentation, Nail dystrop... |
ORPHA:1867 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Abnormal pinna morphology, Abnormality of the anterior pituitary, Coarse ... |
ORPHA:75389 |
| Cranioectodermal Dysplasia 3 |
|
Sparse hair, Broad nail, Short nail, Fine hair |
OMIM:614099 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
| Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
| Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Macrotia, Fine hair, Telangiectasia, Protruding ear, Fragile nails, ... |
OMIM:601675 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse eyelashes, Eczema, Blepharitis |
OMIM:618535 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Paronychia, Increased circulating IgE level, Erythroderma, Blepharitis, Onychogryposis |
OMIM:614328 |
| Rhabdoid Tumor |
|
Renal neoplasm, Lymphadenopathy, Neoplasm of the central nervous system, Anemia, Weight loss, Neo... |
ORPHA:69077 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ... |
OMIM:618986 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... |
ORPHA:444463 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
| Cono-Spondylar Dysplasia |
|
Short nail |
ORPHA:420794 |
| Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
| Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Palmoplantar hyperkeratosis, Premat... |
OMIM:613989 |
| Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:614602 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Brittle hair, Bilateral cryptorchidism, Low-set ears, Neutropenia, Tiger tail bandin... |
OMIM:616395 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... |
OMIM:166600 |
| Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Failure ... |
ORPHA:100 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Brittle hair, Absent nipple, Hypohidrotic ectodermal dysplasia, Sparse hair, Dry skin, Absent hair |
OMIM:614940 |
| Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
| Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
| Naxos Disease |
|
Curly hair, Subungual hyperkeratosis, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... |
OMIM:601214 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
| Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... |
OMIM:619790 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Ascites, Hepatomegaly, Recurrent infections, Decreased circulating antibody level |
OMIM:301045 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Follicula... |
OMIM:613102 |
| Ichthyosis, Congenital, Autosomal Recessive 4A |
|
Palmoplantar keratoderma, Leukonychia, Hepatosplenomegaly |
OMIM:601277 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
| Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Thrombocytopenia, Pterygium o... |
OMIM:224230 |
| Dermotrichic Syndrome |
|
Anemia, Nail dystrophy, Hyperconvex toenail |
ORPHA:99688 |
| Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia... |
OMIM:106260 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Reticular hyperpigmentation, Premature graying of hair, Nail dystrophy, Bone marrow... |
OMIM:619767 |
| Pgm3-Cdg |
|
Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A... |
ORPHA:443811 |
| Larsen Syndrome |
|
Cryptorchidism, Short nail |
ORPHA:503 |
| Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
| Papillon-Lefèvre Syndrome |
|
Abnormal fingernail morphology, Hypopigmented skin patches, Palmoplantar hyperkeratosis, Palmopla... |
ORPHA:678 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Hepatomegaly, Aplasia/Hypoplasia of the skin, Diabetes mellitus, Dys... |
ORPHA:280365 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Epicanthus, Conjugated hyperbilirubinemia, Splenomegaly, Hydrops fetalis, Ascites, ... |
OMIM:269920 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:601457 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Pachyonychia Congenita 3 |
|
Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail dystrophy, Fol... |
OMIM:615726 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... |
ORPHA:171442 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia |
OMIM:617638 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Hepatomegaly, Increased circulating interleukin 6 concentration,... |
OMIM:301082 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Meningitis, Recurrent pneumonia, Vasculitis, Recurrent infections, Hematochezia, Subco... |
OMIM:617718 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Meningocele, Pa... |
ORPHA:1010 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia |
OMIM:617585 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... |
ORPHA:100024 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
| Familial Cervical Artery Dissection |
|
Carotid artery tortuosity, Diabetes mellitus, Carotid artery dissection, Transient ischemic attac... |
ORPHA:36382 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Anonychia, Nail dystrophy, Anemia, Palmoplantar keratoderma |
ORPHA:79409 |
| Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Dystrophic toenail, Nail... |
ORPHA:3253 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... |
ORPHA:86812 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating gonadotropin concentration, ... |
OMIM:614841 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature |
OMIM:617069 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Decreased te... |
OMIM:610644 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C... |
OMIM:219200 |
| Netherton Syndrome |
|
Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Angioedema, Hypereosinophili... |
OMIM:256500 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic hair, Hyperkeratosis, Nail dystrophy, ... |
OMIM:148210 |
| Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... |
OMIM:618138 |
| Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Hearing impairment, Fragile nails, Fine hair |
ORPHA:500166 |
| Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... |
OMIM:619146 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
| Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia |
ORPHA:2574 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility |
ORPHA:166277 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Abnormality of skin pigmentation, Nail dystrophy, Bone marrow hypocellularity, Sparse hair |
OMIM:616353 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Focal Segmental Glomerulosclerosis 1 |
|
Edema, Hyperlipidemia, Hypoalbuminemia, Pleural effusion, Ascites |
OMIM:603278 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... |
OMIM:620265 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobuli... |
ORPHA:98813 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Leukonychia |
OMIM:617525 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... |
OMIM:300580 |
| Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Acrogeria |
|
Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle... |
ORPHA:2500 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Ollier Disease |
|
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, L... |
ORPHA:296 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Roifman Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Prominent eyelashes, Lymphadenopathy |
OMIM:616651 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Low posterior hairline, Nail dystrophy, ... |
OMIM:300860 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
| Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, EEG with focal spike waves, Frontal balding, EEG with irregula... |
ORPHA:1942 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Recurrent loss of toenails and fingernails, Dystrophic fingernails, Dystrophic toenail, Palmoplan... |
ORPHA:158673 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Low-set ears, Conductive hearing ... |
OMIM:617412 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... |
ORPHA:261529 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ... |
OMIM:256030 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Porphyria Cutanea Tarda, Type I |
|
Hyperpigmentation of the skin, Hypertrichosis |
OMIM:176090 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Thrombocytopenia... |
ORPHA:3322 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Muscle Hypertrophy |
|
Skeletal muscle hypertrophy |
OMIM:614160 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| 19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Hypospadias, Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Growth del... |
ORPHA:217346 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Acute lymphoblastic leukem... |
ORPHA:486 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... |
OMIM:607594 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Nail dystrophy, Highly arched eyebrow |
OMIM:300887 |
| Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Long eyelashes, Short nail, Thick eyebrow |
ORPHA:324540 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy, Weight ... |
ORPHA:86893 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Thin eyebrow, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
| Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Ectodermal dysplasia... |
OMIM:129490 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abscess, Abnormality of the testis si... |
ORPHA:400 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia |
OMIM:618108 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Follicular hyperkeratosis, S... |
OMIM:158310 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Reticulated skin pigmentation, Bone marrow hypocellularity, Nail dystrophy, Testicu... |
OMIM:613987 |
| Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
| Acromesomelic Dysplasia 1 |
|
Short nail |
OMIM:602875 |
| Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Conjunctivitis, Recurrent sinus... |
OMIM:613493 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Dystrophic toenail |
OMIM:600882 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles |
OMIM:601706 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphaden... |
OMIM:240500 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Nail dystrophy |
OMIM:613988 |
| Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:1525 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Abnormality of... |
ORPHA:90368 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Low-set, posteriorly rotated ears, Prematurely aged appearance, Cryptorch... |
ORPHA:2617 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
| Albinism-Deafness Syndrome |
|
Patchy hypo- and hyperpigmentation, Piebaldism, Partial albinism, Albinism |
OMIM:300700 |
| Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... |
ORPHA:97240 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,... |
OMIM:209950 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
| Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Short stature, Sparse eyebrow, Cryptorchidism, Atypical scar... |
ORPHA:75496 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis |
OMIM:103500 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Ab... |
OMIM:308300 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:608106 |
| Eiken Syndrome |
|
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... |
OMIM:605355 |
| Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
| Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
| Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
| Kerion Celsi |
|
Recurrent cutaneous abscess formation, Lymphadenopathy |
ORPHA:499 |
| Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Ascites, Increased total bilirubin |
ORPHA:890 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Failure to thrive, Hypothyroid... |
OMIM:618999 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
| Restrictive Dermopathy |
|
Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl... |
ORPHA:1662 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestas... |
OMIM:615895 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Hypermelanotic macule, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Hy... |
ORPHA:317 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... |
ORPHA:353 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneo... |
OMIM:618282 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia, Polyhydramnios, Hemangiomatosis, Visceral angiomatosis, Hydrops feta... |
ORPHA:2123 |
| Myopathy, Distal, 3 |
|
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... |
OMIM:610099 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia, Cutaneous abscess |
OMIM:147060 |
| Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Pyle Disease |
|
Limited elbow extension, Thin bony cortex, Reduced bone mineral density |
OMIM:265900 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Increased total bilirubin |
OMIM:174050 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop... |
OMIM:106210 |
| Hajdu-Cheney Syndrome |
|
Short nail, Cryptorchidism, Synophrys, Hirsutism, Long eyelashes, Umbilical hernia, Thick eyebrow |
OMIM:102500 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
| Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
| Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
| Leukonychia Totalis |
|
Abnormal eyelash morphology, Blepharitis |
ORPHA:2387 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
| Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Optic atrophy, Fine hair, Protruding ear, Low-set... |
OMIM:617988 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphat... |
OMIM:616005 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Failure to thrive, Abscess, Eosinophilia, Increased circulating IgE level, Hodg... |
OMIM:615816 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... |
OMIM:608340 |
| Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion |
ORPHA:411777 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Decreased adipose tissue around neck, Brittle hair, Prominent superficial veins, Proger... |
OMIM:608612 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange, Malar rash, Recurrent infections |
OMIM:618097 |
| Yellow Nail Syndrome |
|
Yellow nails, Slow-growing nails |
OMIM:153300 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
| Primary Intestinal Lymphangiectasia |
|
Generalized edema, Edema, Disseminated cutaneous warts, Pericardial effusion, Cryptococcal mening... |
ORPHA:90362 |
| Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Brittle hair, Slow-growing hair, Redundant skin, Thickened hel... |
ORPHA:1340 |
| Prolidase Deficiency |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Splenomegaly, Low a... |
ORPHA:742 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Conductive hearing impairment, Severe sensorineural hearing impairment, Sparse hair, Hypothyroidi... |
OMIM:620186 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Skin dimple, Thin skin, Sparse hair, Intrauterine growth retardation, Failure to thrive, Aplasia/... |
ORPHA:261304 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Reticular hyperpigmentation, Nail dystrophy, Testicu... |
OMIM:618165 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Abnormal toenail morphology, Abn... |
ORPHA:494 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis |
OMIM:227260 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Nail dystrophy |
OMIM:615190 |
| Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Bone marrow hypocellularity, Pancytopenia, Aplastic anemia, Nail dystrophy |
OMIM:616553 |
| Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... |
OMIM:618823 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
| Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Abnormal eyelid morphology, Pustule, Corneal erosion, Cheilitis, Con... |
ORPHA:37 |
| Sea-Blue Histiocytosis |
|
Blepharitis |
ORPHA:158029 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
| Dermoodontodysplasia |
|
Sparse scalp hair, Melanocytic nevus, Thin skin, Fingernail dysplasia, Trichodysplasia, Toenail d... |
ORPHA:1660 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Cryptorchidism, Fine hair |
ORPHA:1174 |
| Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
| Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Skin rash, Pericardial effusion, Meningitis, Angioedema, Lymphoma, Sp... |
ORPHA:36412 |
| Dermatoleukodystrophy |
|
Premature skin wrinkling, Macrotia, Progeroid facial appearance |
OMIM:221790 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Edema, Recurrent infections, Decreased circulating antibody level, Hypoalbuminemia,... |
OMIM:226300 |
| Cranioectodermal Dysplasia 1 |
|
Recurrent respiratory infections, Epicanthus, Telecanthus, Slow-growing hair, Short nail, Thin na... |
OMIM:218330 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy,... |
ORPHA:79501 |
| Reticular Dysgenesis |
|
Abnormality of neutrophils, Decreased circulating antibody level, Weight loss, Leukopenia, Failur... |
ORPHA:33355 |
| Griscelli Syndrome |
|
Abnormal eyebrow morphology, Hepatomegaly, Abnormal eyelash morphology, Silver-gray hair, Splenom... |
ORPHA:381 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon... |
ORPHA:2635 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro... |
OMIM:617052 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
| Coffin-Siris Syndrome 5 |
|
Sparse scalp hair, Hypoplastic toenails, Low anterior hairline, Dystrophic toenail, Long eyelashe... |
OMIM:616938 |
| Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Adrenal insu... |
ORPHA:75233 |
| Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly, Refractory anemia with ringed sideroblasts, Type II diabete... |
ORPHA:1133 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... |
OMIM:613101 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... |
ORPHA:180229 |
| Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
| Burkitt Lymphoma |
|
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse... |
ORPHA:2251 |
| Dermoodontodysplasia |
|
Thin skin, Nail dysplasia, Trichodysplasia |
OMIM:125640 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat... |
ORPHA:399086 |
| Meige Disease |
|
Angiosarcoma, Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Restrictive Dermopathy 1 |
|
Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Absent eyelashes, Sparse eyebrow, Hydropi... |
OMIM:275210 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Long eyelashes, Short nail |
ORPHA:1675 |
| Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Cryptorchidism, Thrombocytopenia, Premature graying of hair, Nail dystrophy, Lymphopenia, Anemia |
OMIM:620365 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism, Excessiv... |
ORPHA:3051 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
| Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Weight loss... |
ORPHA:449400 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
| Immunodeficiency 32A |
|
Lymphadenitis, Granuloma, Lymphadenopathy |
OMIM:614893 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Tangier Disease |
|
Splenomegaly, Nail dystrophy, Nail dysplasia |
OMIM:205400 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... |
OMIM:619510 |
| Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
| Myopathy, Centronuclear, 4 |
|
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Sepsis, Conjunctivitis, Chronic oral candidiasis, Meningitis |
OMIM:616740 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... |
OMIM:603511 |
| Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Soft tissue sarcoma, Weight loss |
ORPHA:2023 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
| Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
| Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Myelodysplasia, Adrenal hypoplasia, Thrombocytopenia, Cryptorchid... |
OMIM:617053 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey... |
ORPHA:294023 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thin skin, Attention deficit hyperactivity diso... |
OMIM:617364 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... |
ORPHA:432 |
| Classic Mycosis Fungoides |
|
Alopecia, Splenomegaly, Hypopigmented skin patches, Lymphadenopathy, Hyperkeratosis, Irregular hy... |
ORPHA:2584 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Abnormal eyebrow morphology, Recurrent respiratory infections, Alopecia... |
ORPHA:1775 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Brittle hair, Hydrocele testis |
OMIM:618810 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... |
ORPHA:75840 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
| Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Neoplasm of the larynx, Adrenocorticotropic hormone excess... |
ORPHA:100083 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Weight loss |
ORPHA:2902 |
| Immunodeficiency 54 |
|
Chromosome breakage, Recurrent respiratory infections, Hepatomegaly, Lymphoproliferative disorder... |
OMIM:609981 |
| Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Cupped ear, Protruding ear, Nail dystrophy |
ORPHA:93947 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
| Larsen Syndrome |
|
Cryptorchidism, Spina bifida occulta, Short nail |
OMIM:150250 |
| Acrocapitofemoral Dysplasia |
|
Broad nail, Short nail |
OMIM:607778 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphoma, Recurrent tonsillitis, Decreased circulating antibody level... |
ORPHA:397596 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Nail dystrophy, Recurrent loss of toenails and fingernails |
OMIM:245660 |
| Revesz Syndrome |
|
Aplastic anemia, Nail pits, Fine hair, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, ... |
OMIM:268130 |
| Kaposi Sarcoma |
|
Macule, Generalized lymphadenopathy, Hypermelanotic macule, Venous insufficiency, Abnormality of ... |
ORPHA:33276 |
| Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
| Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... |
OMIM:614399 |
| Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Nail pits, Reticular hyperpigmentation,... |
OMIM:127550 |
| 46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Short stature, Sparse pubic hair, Increased circul... |
ORPHA:243 |
| Splenoportal Vascular Anomalies |
|
Splenomegaly, Ascites, Hyperammonemia |
OMIM:271500 |
| Chylous Ascites |
|
Ascites, Neoplasm, Pancreatitis, Lymphedema |
ORPHA:1160 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... |
ORPHA:119 |
| Immunodeficiency 70 |
|
Decreased circulating antibody level, Decreased circulating total IgA, Decreased circulating tota... |
OMIM:618969 |
| Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
| Osteogenesis Imperfecta, Type Xxii |
|
Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density |
OMIM:619795 |
| Cushing Disease |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Leukocytosis, I... |
ORPHA:96253 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Impaired Ig class switch reco... |
OMIM:608184 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
| Amoebic Keratitis |
|
Anterior uveitis, Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
| Proteus Syndrome |
|
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex |
OMIM:176920 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Polycystic ovaries, Thin toenail... |
ORPHA:2228 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Thyroiditis, Hepatitis, Weight loss, Lymphadenopathy, Lymphocytosis |
ORPHA:139402 |
| Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti... |
ORPHA:2686 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Short stature, Cryptorchidism, Thin skin, Sparse hair, Intrauterine growth retardation, Failure t... |
OMIM:219150 |
| Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Short stature, Splenomegaly, Disproportionate short-trunk short stature, Reduced sper... |
OMIM:602271 |
| Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... |
OMIM:620249 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets |
OMIM:619065 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Hyperpigmentation of the skin, Nail dystrophy, Nail dysplasia, Anemia |
OMIM:175500 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Normocytic anemia, Pancytopenia, Hepatomegaly, Abnormal fingernail morpho... |
ORPHA:75564 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... |
OMIM:619281 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to... |
OMIM:620210 |
| Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... |
OMIM:613011 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Epicanthus, Highly arched eyebrow, Long eyelashes, Chronic otitis media, Pulmonary arterial hyper... |
ORPHA:261279 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema, Predominantly lower limb lymphedema... |
ORPHA:69735 |
| Diencephalic Syndrome |
|
Neoplasm of the nervous system, Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreas... |
ORPHA:1672 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
| Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
| Hip Dysplasia, Beukes Type |
|
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... |
ORPHA:2114 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
| Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, ... |
OMIM:615934 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Weight loss,... |
ORPHA:545 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Sepsis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, ... |
ORPHA:906 |
| Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... |
OMIM:619208 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... |
ORPHA:79414 |
| Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting |
OMIM:609452 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Ectoderm... |
OMIM:613573 |
| Congenital Erythropoietic Porphyria |
|
Facial hypertrichosis, Recurrent bacterial skin infections, Nonimmune hydrops fetalis, Edema, Abn... |
ORPHA:79277 |
| Majeed Syndrome |
|
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi... |
ORPHA:77297 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
| Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Epicanthus, Low anterior hairline, Breast carcinoma, Ovarian neoplasm, Upsla... |
OMIM:617883 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Postnatal growth retardation, Mental deterioration, Fine hair, Premature graying o... |
OMIM:612199 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis, Generalized hirsutism, Progeroid facial appearance, Hearing impairment |
ORPHA:79087 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Failure t... |
ORPHA:90045 |
| Boucher-Neuhauser Syndrome |
|
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism |
OMIM:215470 |
| Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Pancreatic cysts, Hepatic cysts, A... |
ORPHA:284 |
| Dermatitis, Atopic |
|
Keratoconus, Cataract, Recurrent skin infections, Allergic rhinitis, Eczema, Atopic dermatitis, C... |
OMIM:603165 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hyperammonemia, Hyperalaninemia, Pleural effusion, Ascites, Oligohydramnios |
OMIM:614702 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Primary hypercortisolism, Paradoxical increased co... |
OMIM:610475 |
| Ck Syndrome |
|
Abnormal cortical bone morphology, Joint hypermobility |
OMIM:300831 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Increased circulating ferritin concentration, Splenomegaly, Increased ser... |
OMIM:235200 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Recurrent fractures, Osteopetrosis |
OMIM:611490 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H... |
OMIM:607823 |
| Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Prematurely aged appearance, Concave na... |
ORPHA:33364 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Sparse scalp hair, Pancytopenia, B lymphocytopenia, Nail dystrophy, Bone marrow hypocellularity, ... |
OMIM:620133 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Recurrent enteroviral infections, Recurrent ear i... |
ORPHA:79124 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Abnormal fingernail morphology, Sparse body hair, Thin skin |
ORPHA:1810 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... |
OMIM:618484 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair, Cutis marmorata |
OMIM:236200 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Anonychia, Nail dystrophy, Nail dysplasia |
OMIM:226730 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Adenoma sebaceum, Aplasia... |
ORPHA:3353 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Decreased circulating antibody level, Fib... |
OMIM:619750 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Orthokeratosis, Abnorm... |
OMIM:607602 |
| Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Eosinophilia |
OMIM:613412 |
| Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Eosinophilia |
OMIM:610247 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Severe infection, Ne... |
ORPHA:1041 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Conjunctivitis, Recurrent otitis media, Chro... |
OMIM:612692 |
| Lymphatic Malformation 5 |
|
Yellow nails |
OMIM:153200 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow, Prematurely... |
ORPHA:1807 |
| Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
| Elastoderma |
|
Premature skin wrinkling, Cutis laxa |
ORPHA:228240 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Telangiectasia, Premature skin wrinkling, Thrombocytopenia |
ORPHA:101028 |
| Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin, Hypogonadotropic hypogonadism, Short stature, Decr... |
ORPHA:1643 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Nonimmune hydrops fetalis, Edema, Abnormal circulating porph... |
ORPHA:95159 |
| Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
| Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Hypoplastic toenails, Absent thumbnail, Absent toenail, Absent fingernail, Aplasia cutis congenit... |
ORPHA:79499 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
| Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Hypoplasia of the ear... |
ORPHA:113 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
| Aspergillosis |
|
Eosinophilia, Hematological neoplasm, Increased circulating IgE level, Hepatitis, Neutropenia |
ORPHA:1163 |
| Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Ascites, Hydrops fetalis |
ORPHA:295 |
| Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Palmar hyperkeratosis, Dystrophic fingernails... |
OMIM:150400 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Brittle hair, Splenomegaly, Sensorineural hearing impairment, Schistocytosi... |
OMIM:616084 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Hyperthyroidism, Failure to thrive in infancy, Alopecia, Cachexia, A... |
ORPHA:37042 |
| Grant Syndrome |
|
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification |
ORPHA:2097 |
| Proteus-Like Syndrome |
|
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
| Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia, Weight loss |
ORPHA:2070 |
| Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Abnormality of the thyroid gland, Re... |
ORPHA:449432 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia, Abnormal hair morphology, Paronychia, Lymphoma, Increased circulating IgE level, Dy... |
ORPHA:2314 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... |
ORPHA:73 |
| Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... |
ORPHA:59135 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Onycholysis, Fol... |
OMIM:616295 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Anemia, Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:226600 |
| Atypical Werner Syndrome |
|
Abnormal cerebral vascular morphology, Abnormal hair whorl, Fasting hyperinsulinemia, Premature g... |
ORPHA:79474 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Chronic neutropenia, Gen... |
OMIM:614700 |
| Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
| Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Thick hair, Low anterior hairline, Cutis laxa, Sacral hypertrichosis... |
ORPHA:363705 |
| Satoyoshi Syndrome |
|
Short stature, Abnormal hair morphology, Nephrogenic diabetes insipidus, Hypoplasia of the uterus... |
ORPHA:3130 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly... |
OMIM:616100 |
| Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Pleural effusion, Fibrosarcoma, Ascites, Hi... |
ORPHA:314478 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Osteoporosis |
OMIM:615270 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Hirsutism, Obesity, Increased circulating ACTH level, Abdominal obesity, Oligo... |
OMIM:219090 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
| Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Sparse scalp hair, Short nail |
OMIM:271640 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
| Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Premature skin wrinkling |
OMIM:601349 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Lymphadenopathy, Ovarian neoplasm, Weight ... |
ORPHA:2221 |
| Syndromic Diarrhea |
|
Lymphopenia, Hypopigmentation of hair, Brittle hair, Thrombocytosis, Increased mean platelet volu... |
ORPHA:84064 |
| N Syndrome |
|
Abnormality of chromosome stability, Leukemia, Neoplasm |
OMIM:310465 |
| Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Hepatomegaly, Ascites |
ORPHA:2198 |
| Hawkinsinuria |
|
Sparse hair, Hypothyroidism, Fine hair |
ORPHA:2118 |
| Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Premature skin wrinkling, Low-set ears, Sensorineural hearing impairment |
OMIM:617950 |
| Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Hypoplasia of penis, Short stature, Cryptorchidism, Obesity, Hypop... |
ORPHA:110 |
| Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Thrombocytosis, Increased mean platelet volume, Splenomegaly, Jaundice,... |
OMIM:222470 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ... |
ORPHA:79396 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating IgG level, Decr... |
OMIM:618495 |
| Cog5-Cdg |
|
Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Hepatosplenomegaly, A... |
ORPHA:263487 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Thyroid Hormone Resistance, Selective Pituitary |
|
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... |
OMIM:145650 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Brain neoplasm, Elevated carcinoma antigen 125 level, Elevated circulat... |
ORPHA:370348 |
| Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Immunodeficiency 22 |
|
Pericarditis, Recurrent upper respiratory tract infections, Decreased circulating total IgM, Asci... |
OMIM:615758 |
| Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Hyperkeratosis, Onycholysis |
ORPHA:525 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Abnormal cerebral vascular morphology, Venous insufficiency, Skin... |
ORPHA:743 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede... |
OMIM:265300 |
| Scleroderma, Familial Progressive |
|
Calcinosis, Chromosome breakage, Abnormality of chromosome stability, Abnormal abdomen morphology |
OMIM:181750 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1962 |
| Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Preauricular pit, Curly hair, Failure to thrive, Slow-growing hair, Short stature, Highly arched ... |
OMIM:617506 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility |
ORPHA:1486 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Myelodysplasia, Anemia of in... |
ORPHA:98826 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... |
OMIM:602390 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
| Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko... |
ORPHA:98850 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Subperiosteal bone formation, Osteosclerosis of the base of the skull |
OMIM:609993 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Low-set, posteriorly rotated ears, Prematurely aged appearance, Hypogonadotropic hypogonadism, Cr... |
ORPHA:1387 |
| Eec Syndrome |
|
Slow-growing hair, Decreased response to growth hormone stimulation test, Sparse eyebrow, Nail pi... |
ORPHA:1896 |
| Lacrimal Duct Defect |
|
Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele |
OMIM:149700 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Asplenia, Pigmentary retinopathy, Nail dystrophy, Cholelithiasis, A... |
OMIM:240300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Recurrent upper respira... |
OMIM:618183 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Aplasia/Hypoplasia of the skin, Thin skin, Abnormal cerebral vascular morph... |
ORPHA:745 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... |
ORPHA:2232 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Disproportionate short-limb short stature, Stillbirth, Thin skin |
OMIM:259410 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm... |
ORPHA:2273 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Failure to thrive, Diabetes mellitus, Female hypogonadism, Abnor... |
OMIM:208900 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Lymphoma, Recu... |
OMIM:210900 |
| Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
| Yellow Nail Syndrome |
|
Renal neoplasm, Recurrent respiratory infections, Sinusitis, Abnormal fingernail morphology, Lymp... |
ORPHA:662 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Prominent superficial veins, Short stature, Moderately short stature, Cigarette-paper scars, Thin... |
OMIM:612350 |
| Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Leukemia, Myelodysplasia |
OMIM:614082 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
| Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Abnormality of skin pigmentation, Nail dystrophy, Decreased testicula... |
OMIM:620040 |
| Free Sialic Acid Storage Disease |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites |
ORPHA:834 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... |
ORPHA:231401 |
| Ramon Syndrome |
|
Hyperkeratosis, Abnormality of retinal pigmentation, Generalized hirsutism |
ORPHA:3019 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Brittle hair, Fine hair, Chordee, Type II diabetes mellitus, Delayed puberty, Sparse hair |
OMIM:618891 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Moderately short stature, Failure to thrive, Thin skin |
ORPHA:157965 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Ridged nail, Oropharyngeal squamous cell carcinoma, Alopecia, Sparse eyel... |
OMIM:305000 |
| Mulibrey Nanism |
|
Hepatomegaly, Nephroblastoma, Hydrops fetalis, Recurrent lower respiratory tract infections, Ascites |
OMIM:253250 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... |
ORPHA:54251 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Abnormality of the tonsils, Abnormality of the l... |
ORPHA:47 |
| Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Verrucae, Neutropenia |
OMIM:193670 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Anomalous pulmonary venous return, Persistent lef... |
ORPHA:244 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... |
ORPHA:2235 |
| Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding, Cutaneous photosensitivity |
OMIM:616390 |
| Wrinkly Skin Syndrome |
|
Short nail, Cryptorchidism, Sparse hair, Umbilical hernia, Fragile nails |
OMIM:278250 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Nonimmune hydrops fetalis, Elevated circulating alpha-fetoprotein concentration, Conjugated hyper... |
OMIM:617049 |
| Darier Disease |
|
Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of... |
ORPHA:218 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Edema, Elevated circulating creatinine concentration, Hypoalbuminemia, Ascites, Oli... |
OMIM:608104 |
| Campomelic Dysplasia |
|
Short nail, Spina bifida, Spinal dysraphism |
OMIM:114290 |
| Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, External ear malform... |
ORPHA:2710 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss |
ORPHA:79238 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... |
ORPHA:572 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... |
OMIM:619041 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Prominent superficial veins, Cryptorchidism, Fine hair, Thin skin, Sparse hair, Intrauterine grow... |
OMIM:614438 |
| Abcd Syndrome |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... |
OMIM:600501 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Sparse hair, Alopecia univer... |
ORPHA:158668 |
| Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Posteriorly rotated ears, Fine hair, Low-set ears, Sparse hair |
OMIM:615278 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Polyhydramnios, Oligohydramnios |
ORPHA:1046 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Weight loss, Neoplasm, Bone marrow hypocel... |
ORPHA:391 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin... |
ORPHA:33110 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Hypospadias, Short stature, Cryptorchidism, Coarctation of aorta, ... |
OMIM:617602 |
| Barber-Say Syndrome |
|
Dermal translucency, Absent nipple, Sparse eyelashes, Redundant skin, Extra concha fold, Hearing ... |
OMIM:209885 |
| De Barsy Syndrome |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Patent ductus arteriosus, Hypoplasti... |
ORPHA:2962 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation, Nail dysplasia |
OMIM:225050 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Intestinal lymphedema, B-cell lymphoma, Edema, Lymphedema, Redu... |
ORPHA:90363 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... |
ORPHA:486815 |
| Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites |
ORPHA:87876 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Hyperammonemia, Recurrent infections, Dehydration, Hypoalbuminemia, H... |
ORPHA:1667 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal hair morphology, Alopecia, Nail dystrophy, Hyperpigmentation of the skin |
ORPHA:90154 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Central hypothyroi... |
ORPHA:514 |
| Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Weaver Syndrome |
|
Deep-set nails, Low-set, posteriorly rotated ears, Abnormal fingernail morphology, Thin nail, Red... |
ORPHA:3447 |
| Naxos Disease |
|
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture |
ORPHA:34217 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level |
OMIM:617425 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Entropion, Cataract, Telangiectasia of the skin, Keratitis, Ankylobl... |
ORPHA:910 |
| Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... |
OMIM:611548 |
| Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
| Dermatoosteolysis, Kirghizian Type |
|
Dystrophic fingernails, Abnormality of the nail, Dystrophic toenail |
ORPHA:1657 |
| Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
| Hepatoportal Sclerosis |
|
Splenomegaly, Recurrent infections, Hypoalbuminemia, Hyperbilirubinemia, Ascites |
ORPHA:64743 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Vitreous hemorrhage, Uveitis, Posterior retinal neovascula... |
OMIM:193235 |
| Fg Syndrome 3 |
|
Cryptorchidism, Sensorineural hearing impairment, Fine hair, Frontal upsweep of hair, Sparse hair |
OMIM:300406 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Generalized hyperpigmentation, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse e... |
ORPHA:1071 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Microcytic anemia |
OMIM:618852 |
| Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Epicanthus, Elevated circulating alpha-fetoprotein concentration, Synophrys, Increased nuchal tra... |
ORPHA:280633 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, E... |
ORPHA:199299 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
| Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Weight loss |
ORPHA:64741 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis |
ORPHA:1028 |
| Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... |
ORPHA:397744 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad... |
OMIM:618048 |
| Congenital Toxoplasmosis |
|
Macule, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive in infancy, Jaundice, Lymp... |
ORPHA:858 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Ascites, Hyperammonemia, Edema |
OMIM:611719 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Conjunctival icterus, Abnormal circu... |
ORPHA:57777 |
| Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Nail dystrophy, Nail dysplasia |
OMIM:256800 |
| Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Short stature, Splenomegaly, Primary amenorrhea, Hepatosplenomeg... |
OMIM:612526 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis... |
OMIM:602562 |
| Poems Syndrome |
|
Lymphoproliferative disorder, Edema, Pericardial effusion, Leukonychia, Pleural effusion, Increas... |
ORPHA:2905 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita |
OMIM:619334 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
| Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Incontinentia Pigmenti |
|
Alopecia, Abnormal fingernail morphology, Eosinophilia, Supernumerary nipple, Abnormal hair morph... |
ORPHA:464 |
| Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Myelodysplasia, Cholangitis, Thrombocyto... |
ORPHA:3260 |
| Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... |
ORPHA:555905 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... |
OMIM:617228 |
| Silver-Russell Syndrome 2 |
|
Intrauterine growth retardation, Short stature, Thin skin |
OMIM:618905 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemophagocytosis, ... |
OMIM:301078 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Trichorrhexis nodosa, Breast aplasia, Thin skin, Cogni... |
ORPHA:238468 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... |
ORPHA:1782 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Incr... |
ORPHA:508533 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Failure to thrive |
OMIM:602361 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Polyhydramnios, Lymphedema, Splenomegaly, Downslanted palpebral fissures, Hypocalce... |
OMIM:235255 |
| X-Linked Ehlers-Danlos Syndrome |
|
Short stature, Thin skin |
ORPHA:75497 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Primary hypercortisolism, Decreased circulating ACTH concentration, Truncal ... |
OMIM:219080 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Abnormal hair morphology, Hyperkeratosis, Palmoplantar keratoderma, Small nail |
OMIM:242100 |
| Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Cachexia, Thin eyebrow, Decreased tes... |
ORPHA:3242 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:306400 |
| Recon Progeroid Syndrome |
|
Short stature, Hirsutism, Hyperconvex thumb nails, Absent lower eyelashes, Anemia, Growth delay, ... |
OMIM:620370 |
| Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
| Alg8-Cdg |
|
Abnormality of subcutaneous fat tissue, Thrombocytopenia, Optic atrophy, Cutis laxa, Low-set ears... |
ORPHA:79325 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter |
OMIM:613752 |
| Craniolenticulosutural Dysplasia |
|
Brittle hair, Cryptorchidism, Optic atrophy, Coarse hair, Sparse hair |
OMIM:607812 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Posteriorly rotated ears, Cryptorchidism, Macrotia, ... |
OMIM:601358 |
| Autoimmune Hepatitis |
|
Viral hepatitis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis, Thyroiditis, Ulcerative c... |
ORPHA:2137 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Hepatomegaly, Ascites, Recurrent infections |
OMIM:619463 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
| Werner Syndrome |
|
Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, Neoplasm, Thyroid carcin... |
ORPHA:902 |
| Uv-Sensitive Syndrome 1 |
|
Freckling, Pigmentation anomalies of sun-exposed skin |
OMIM:600630 |
| Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Testicular neoplasm, Bilateral cryptorchidism, In... |
ORPHA:99429 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
| Moebius Syndrome |
|
Corneal opacity, Epicanthus, Blepharitis, Ptosis |
ORPHA:570 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Abnormal fingerna... |
ORPHA:3220 |
| Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, ... |
OMIM:618935 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism |
OMIM:604931 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia |
OMIM:616433 |
| Tularemia |
|
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... |
ORPHA:3392 |
| Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites |
ORPHA:2414 |
| Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Basal cell carcinoma, Pleural e... |
ORPHA:314473 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
| Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Thin skin |
OMIM:613630 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
| Icf Syndrome |
|
Recurrent respiratory infections, Epicanthus, Abnormality of chromosome stability, Decreased circ... |
ORPHA:2268 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Fine hair, Aplastic/hypoplastic toenai... |
ORPHA:1812 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair |
OMIM:619184 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Primary Biliary Cholangitis |
|
Increased circulating IgA level, Conjugated hyperbilirubinemia, Hepatitis, Gastrointestinal infla... |
ORPHA:186 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Short Syndrome |
|
Prominent superficial veins, Small for gestational age, Insulin-resistant diabetes mellitus, Birt... |
OMIM:269880 |
| Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Orchitis, Retroperitoneal fibrosis, ... |
ORPHA:449563 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
| Lacrimoauriculodentodigital Syndrome |
|
Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l... |
ORPHA:2363 |
| Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Aortic aneurysm, Thin skin, Periventricular heterotopia |
ORPHA:98892 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
| Mcdonough Syndrome |
|
Cryptorchidism, Synophrys, Cachexia |
ORPHA:2471 |
| Dengue Fever |
|
Hypoproteinemia, Hepatomegaly, Ascites, Skin rash |
ORPHA:99828 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... |
OMIM:254090 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Elevated carcinoembryonic ant... |
ORPHA:100085 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... |
ORPHA:401768 |
| Hereditary Acrokeratotic Poikiloderma |
|
Hypopigmented skin patches, Palmoplantar hyperkeratosis, Nail dystrophy, Irregular hyperpigmentat... |
ORPHA:2907 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex |
OMIM:617952 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
| Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers |
ORPHA:498359 |
| Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Abnormal hair morphology... |
ORPHA:2591 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Macrovesicu... |
ORPHA:298 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
| Igg4-Related Kidney Disease |
|
Eosinophilia, Increased circulating IgG4 level, Retroperitoneal fibrosis, Lymphadenitis, Abnormal... |
ORPHA:449395 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Dementia, Infertility, Cognitive impairment, Abnormal sperm morphology, D... |
ORPHA:320391 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Sparse eyelashes, Absence of Stensen duct, Sparse axillary hair, Decreased res... |
OMIM:604292 |
| Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Anemia, Weight loss, Bone marrow hypocellu... |
ORPHA:47612 |
| Adams-Oliver Syndrome 5 |
|
Hypoplastic toenails, Hypersplenism, Splenomegaly, Umbilical hernia, Dystrophic toenail, Absent t... |
OMIM:616028 |
| Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
| Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... |
ORPHA:171881 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Ascites, Hypoalbuminemia, Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:617021 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Melanocytic nevus, Nail pits, ... |
ORPHA:978 |
| Igg4-Related Pachymeningitis |
|
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Pancreatiti... |
ORPHA:449427 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Short stature, Cryptorchidism, Growth delay, Thin skin, Anemia |
ORPHA:2719 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse eyebrow, Cutis laxa, Protruding ear, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:619691 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Thin skin |
ORPHA:1658 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Hepatosplenomegaly, Hypoalbuminemia, Asc... |
ORPHA:367 |
| Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... |
OMIM:606070 |
| Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Stroke, Thin skin, Adrenal hypoplasia, Precocious atherosclerosis |
ORPHA:230839 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... |
OMIM:619752 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Recurrent respiratory infections, Telecanthus, Sparse scalp hair, Sparse eyelashes, Sparse axilla... |
OMIM:129900 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra... |
OMIM:255310 |
| Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
| Lig4 Syndrome |
|
Hepatomegaly, Epicanthus, Telecanthus, Abnormality of chromosome stability, Lymphoma, Low anterio... |
ORPHA:99812 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
| Mandibuloacral Dysplasia |
|
Alopecia, Postnatal growth retardation, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Th... |
ORPHA:2457 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary... |
ORPHA:227990 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Recurrent urinary tract infections, Acute pancreatitis, Pericarditis, Chilblains, E... |
OMIM:619487 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnormal lymph node... |
OMIM:612840 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:600081 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Abnormal fingernail morphology, Weight loss |
ORPHA:1164 |
| Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Trichorrhexis nodosa |
OMIM:207900 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
| Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Optic atrophy, Coarse hair, Thick eyebrow |
ORPHA:1021 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
T lymphocytopenia, Reduced natural killer cell count |
OMIM:242860 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Minimal change glomerulonephritis, Facial edema, Hyperlipidemia, Pedal ed... |
ORPHA:567546 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Severe short stature, Thin skin |
ORPHA:1899 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoi... |
ORPHA:227982 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Cog7-Cdg |
|
Excessive wrinkled skin, Jaundice, Hepatosplenomegaly |
ORPHA:79333 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib... |
OMIM:300635 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Severe B lymphocytopenia, Alopecia totalis, Decreased response to growth hormone stimul... |
ORPHA:293978 |
| Agel Amyloidosis |
|
Sparse hair, Abnormal spleen morphology, Nail dystrophy |
ORPHA:85448 |
| Tempi Syndrome |
|
Increased circulating IgG level, Hemangioma, Ascites, Transudative pleural effusion |
ORPHA:284227 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of hair, Sparse ha... |
ORPHA:363618 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Progeroid facial appearance, Sensorineural hearing impairment, Sparse facial hair, Sparse axillar... |
OMIM:608154 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Neonatal sepsis, Edema, Peritonitis, Ascites |
ORPHA:391673 |
| Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Ab... |
ORPHA:69085 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Increased circulating IgA level, Leukocytosis, Lympha... |
OMIM:617099 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... |
OMIM:614129 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter |
OMIM:614096 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... |
OMIM:259700 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia, Autoimmune thrombocytopenia, Leukopenia, Decreased circulating complement C3 concentrat... |
OMIM:301080 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Hepatosplenomegaly, Downslanted palpebral fissures, H... |
ORPHA:1655 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased... |
ORPHA:83313 |
| Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Atrophic scars, Skin dimple, Sp... |
ORPHA:79133 |
| Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:42642 |
| Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Asplenia, Cerv... |
OMIM:614034 |
| Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... |
ORPHA:2688 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Skin rash, Abnormal circulating interleukin concentration, Cholecystitis, Increased serum bile ac... |
ORPHA:69665 |
| Flynn-Aird Syndrome |
|
Alopecia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diab... |
ORPHA:2047 |
| Fg Syndrome Type 1 |
|
Optic nerve hypoplasia, Facial wrinkling, Cryptorchidism, Sensorineural hearing impairment, Cuppe... |
ORPHA:93932 |
| Marshall-Smith Syndrome |
|
Brittle hair, Optic nerve hypoplasia, Highly arched eyebrow, Hearing impairment, Bilateral crypto... |
OMIM:602535 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenomegaly, Decreas... |
OMIM:619375 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
High-frequency sensorineural hearing impairment, Sparse scalp hair, Low-set ears, Fine hair |
ORPHA:2324 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Thrombocytopenia, Nail dystrophy, Hypoplastic nipples, Small nail, Periorbital hyperpigmentation,... |
ORPHA:261323 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Ascites, Hydrops fetalis |
OMIM:619433 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
| Otopalatodigital Syndrome, Type I |
|
Nail dystrophy, Nail dysplasia |
OMIM:311300 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Elevated circu... |
OMIM:619573 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
| Classic Galactosemia |
|
Hepatomegaly, Ascites, Sepsis |
ORPHA:79239 |
| Hennekam Syndrome |
|
Benign neoplasm of the central nervous system, Recurrent respiratory infections, Epicanthus, Spar... |
ORPHA:2136 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... |
ORPHA:528 |
| Malignant Peritoneal Mesothelioma |
|
Ascites, Peritonitis, Neoplasm, Pedal edema |
ORPHA:168811 |
| Coccidioidomycosis |
|
Eosinophilia, Abscess, Abnormality of the endocrine system, Abnormality of the spleen, Mediastina... |
ORPHA:228123 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex |
OMIM:619638 |
| Christianson Syndrome |
|
Thick eyebrow, Cachexia |
ORPHA:85278 |
| Niemann-Pick Disease, Type A |
|
Splenomegaly, Recurrent respiratory infections, Ascites, Hepatomegaly |
OMIM:257200 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites |
OMIM:608776 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... |
OMIM:614069 |
| Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents, Elevated circulating alpha-fetoprotein conce... |
OMIM:617243 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Hamartoma, Weight loss |
ORPHA:141152 |
| Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
| Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Nail dystrophy, Sparse hai... |
ORPHA:436252 |
| H Syndrome |
|
Histiocytosis, Alopecia, Abnormal eyebrow morphology, Psoriasiform dermatitis, Short stature, Dia... |
ORPHA:168569 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
| Pearson Syndrome |
|
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Diabetes mellitus, Small for gestational age, ... |
ORPHA:699 |
| Whipple Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Hypothyroidism, Anemia |
ORPHA:3452 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Short nail, Supernumerary nipple, Cryptorchidism, Splenomegaly, Polysplenia, Umbilical hernia, Hy... |
OMIM:312870 |
| Lymphatic Filariasis |
|
Circulating immune complexes, Lymphadenitis, Orchitis, Abnormality of the lymphatic system, Hyper... |
ORPHA:2035 |
| Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Xerostomia, Arthritis, Keratoconjunctivitis sicca, Ascites, Infectious e... |
ORPHA:779 |
| Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
| Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Pancreatic cysts, Coarse hair, Sparse hair, Dry skin, Hearing impairment |
ORPHA:2750 |
| Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Jaundice, Lymphadenopathy, Pr... |
ORPHA:79477 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Sparse scalp hair, Failure to thrive, Short stature, Cholangitis, Rhizomelia, Pancr... |
OMIM:266920 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Slow-growing hair, Abnormal hair morphology, Cryptorchidism, Conductive hearing impairment, Aplas... |
ORPHA:3082 |
| Warburg-Cinotti Syndrome |
|
Epicanthus, Symblepharon, Narrow palpebral fissure, Decreased corneal thickness, Blepharophimosis... |
OMIM:618175 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
| Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Hashimoto thyroiditis, Autoimmune thrombocytopenia,... |
ORPHA:331235 |
| Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Progeroid facial appearance, Abnormal motor evoked potentials, Hypogonadism, Oligomenor... |
ORPHA:412057 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea |
OMIM:184700 |
| Weismann-Netter Syndrome |
|
Abnormal cortical bone morphology |
ORPHA:3344 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... |
OMIM:617780 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Impotence, Cirrhosis, Neutropenia, ... |
OMIM:604250 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Prominent scalp veins, Hypospadias, Anterior pituitary hypoplasia, Short stature, Cryptorchidism,... |
OMIM:151050 |
| Diastrophic Dysplasia |
|
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
| Riboflavin Transporter Deficiency |
|
Hypogonadism, Diabetes insipidus, Cachexia |
ORPHA:97229 |
| Isolated Congenital Alacrima |
|
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... |
ORPHA:91416 |
| Kaufman Oculocerebrofacial Syndrome |
|
Short stature, Sparse eyebrow, Coarctation of aorta, Hypoplastic labia majora, Thin skin, Sparse ... |
OMIM:244450 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Ectodermal ... |
OMIM:614941 |
| Immunodeficiency 9 |
|
Hypoplasia of the thymus |
OMIM:612782 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Lead Poisoning |
|
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Imbalance... |
ORPHA:330015 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter |
OMIM:617235 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... |
OMIM:241530 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Failure to thrive, Prominent superficial veins, Intermittent thrombocytopenia, Peri... |
OMIM:612541 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Hashimoto thyroiditis, Decreased proportion of CD3-positive T ce... |
ORPHA:275 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Rec... |
ORPHA:420741 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Telecanthus, Epicanthus, Acne, Cataract, Abnormal eyelid morphology,... |
ORPHA:567 |
| Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Recurrent sinopulmonary infections, Recurrent respiratory infections, Abn... |
ORPHA:647 |
| Craniofrontonasal Dysplasia |
|
Abnormality of hair texture, Widow's peak, Sensorineural hearing impairment, Low posterior hairli... |
ORPHA:1520 |
| Indolent Systemic Mastocytosis |
|
Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal m... |
ORPHA:98848 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Alopecia, Premature ovarian insufficiency, Prematurely aged appearance,... |
ORPHA:2959 |
| Familial Atrial Myxoma |
|
Cardiac myxoma, Ascites, Bacterial endocarditis, Pedal edema |
ORPHA:615 |
| Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Hypoplastic nipples... |
OMIM:103285 |
| Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
| Giant Axonal Neuropathy |
|
Woolly hair, Abnormal pituitary gland morphology, Facial palsy, Pili canaliculi |
ORPHA:643 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Alopecia, Skin rash, Edema, Discoid lupus rash, Pericardial effusion, Arthritis, Ascite... |
ORPHA:93552 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Prominent superficial veins, Cryptorchidism, Sensorineural hearing impairment, Fine hair, Delayed... |
OMIM:616817 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification |
ORPHA:163649 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Meier-Gorlin Syndrome 1 |
|
Small for gestational age, Hyperconvex nail, Cryptorchidism, Hypoplastic labia minora, Hypoplasti... |
OMIM:224690 |
| Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
| Bloom Syndrome |
|
Paronychia, Neoplasm, Neoplasm of the breast, Decreased circulating IgG level, Decreased proporti... |
ORPHA:125 |
| Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Thick hair, Redundant skin, Abnormal subcutaneous fat tissue distribution, P... |
ORPHA:357074 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Recurrent respiratory infections, Lagophthalmos, Bilateral ptosis, Corneal scarring, Corneal neov... |
ORPHA:404454 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... |
ORPHA:280356 |
| Microphthalmia, Syndromic 9 |
|
Severe short stature, Short stature, Truncus arteriosus, Cryptorchidism, Patent ductus arteriosus... |
OMIM:601186 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Subcutaneous nodule, Ovarian neoplasm, Arteriovenous malformation, Lymphang... |
ORPHA:137608 |
| Focal Dermal Hypoplasia |
|
Macule, Acute hepatic failure, Alopecia, Aplasia/Hypoplasia of the skin, Skin nodule, Subcutaneou... |
ORPHA:2092 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Hyperkeratosis, Freckling, Hypopigmentation ... |
ORPHA:79431 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Excessive wrinkled skin, Thick hair, Progeroid facial appearance, Hearing impairment |
ORPHA:357058 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
| Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Lymphocytosis,... |
OMIM:258360 |
| Premature Aging Syndrome, Penttinen Type |
|
Prominent superficial veins, Skin nodule, Elevated circulating thyroid-stimulating hormone concen... |
OMIM:601812 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Epicanthus, Hydrops fetalis, Fine hair, Nail dysplasia, Sparse hair, Ascites, Aplasia/Hypoplasia ... |
OMIM:614091 |
| Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... |
ORPHA:251623 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Marshall-Smith Syndrome |
|
Failure to thrive, Generalized hirsutism, Thin skin |
ORPHA:561 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
| Adams-Oliver Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the skin, Portal hypertension, Congenital hepatic fibrosis, Tetra... |
ORPHA:974 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
| Tangier Disease |
|
Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Nail dystrophy, Thrombocytopenia |
ORPHA:31150 |
| Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Dermal translucency, Absent nipple, Prema... |
OMIM:612289 |
| Rodrigues Blindness |
|
Sparse hair, Ectodermal dysplasia, Protruding ear, Fine hair |
OMIM:268320 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
| Typical Nemaline Myopathy |
|
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... |
ORPHA:171436 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
| Opitz-Kaveggia Syndrome |
|
Facial wrinkling, Cryptorchidism, Sensorineural hearing impairment, Fine hair, Frontal upsweep of... |
OMIM:305450 |
| Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma... |
ORPHA:97289 |
| Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
| Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... |
OMIM:258450 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Ascites |
OMIM:256550 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Telecanthus, Polyhydramnios, Hydrops fetalis, Pleural effusion, Ascites |
OMIM:616897 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Atypical scarring of skin, Thin skin, Striae distensae |
OMIM:225310 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Abnormal hair morphology, Weight loss, Premature graying of hair, Type I diabetes mellitus |
ORPHA:1979 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Prominent superficial veins, Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulin... |
OMIM:604367 |
| Short Syndrome |
|
Alopecia, Diabetes mellitus, Sensorineural hearing impairment, Excessive wrinkled skin, Sparse hair |
ORPHA:3163 |
| Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of... |
ORPHA:141083 |
| Glycogen Storage Disease Iv |
|
Polyhydramnios, Edema, Hydrops fetalis, Hepatosplenomegaly, Ascites |
OMIM:232500 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Gastrointestinal str... |
ORPHA:1572 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Splenomegaly, Hepatomegaly, Ascites, Increased serum bile acid concentration |
OMIM:602347 |
| Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Spotty hyperpigmen... |
OMIM:614008 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Increased bone mineral density, Osteoarthritis of the distal inter... |
ORPHA:93284 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Protruding ear, Cutis laxa, Low-set ears, Premature skin wrinkling, Dermal translucency |
OMIM:616603 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Long eyelashes, Abnormal auditory evoked potentials, Low posterior hairline |
OMIM:617523 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Breast aplasia, Thin skin... |
ORPHA:90153 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
| Tumoral Calcinosis, Normophosphatemic, Familial |
|
Conjunctivitis |
OMIM:610455 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:615952 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Atrophic scars, Thin skin |
OMIM:225320 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Prematurely aged appearance, Dysmenorrhea, Hearing impairment, Sparse... |
ORPHA:2067 |
| Lymphatic Malformation 6 |
|
Epicanthus, Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphe... |
OMIM:616843 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... |
OMIM:616866 |
| Distal Duplication 6P |
|
Abnormal hair quantity, Abnormal eyelash morphology, Aplasia/Hypoplasia of the earlobes, Fine hai... |
ORPHA:1745 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow, Cachexia |
ORPHA:884 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, Hashimoto thy... |
ORPHA:99413 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Subungual hyperkeratosis, Absent eyelashes, Cryptorc... |
OMIM:308205 |
| Mosaic Monosomy X |
|
Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, Hashimoto thy... |
ORPHA:99228 |
| Monosomy X |
|
Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, Hashimoto thy... |
ORPHA:99226 |
| Turner Syndrome |
|
Hypoplastic toenails, Hyperconvex fingernails, Hepatic fibrosis, Hepatic steatosis, Hashimoto thy... |
ORPHA:881 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Patchy hypo- and hyperpigmentation, Crypto... |
ORPHA:163956 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Chole... |
OMIM:300972 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Dysmenorrhea, Abnormal erythrocyte en... |
ORPHA:264580 |
| Thymoma |
|
Aplastic anemia, Neoplasm of head and neck, Pure red cell aplasia, Abnormal lymphocyte proliferat... |
ORPHA:99867 |
| Ring Chromosome 12 Syndrome |
|
Cryptorchidism, Dystrophic toenail, Breast hypoplasia, Hirsutism |
ORPHA:1439 |
| Leopard Syndrome 2 |
|
Curly hair, Dry skin, Low-set ears |
OMIM:611554 |
| Noonan Syndrome 6 |
|
Curly hair, Juvenile myelomonocytic leukemia, Long eyebrows, Cryptorchidism, Sensorineural hearin... |
OMIM:613224 |
| Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperthyroidism, Diabetes mellitus, Aortic root aneurysm, Thin skin, Attent... |
ORPHA:449291 |
| Werner Syndrome |
|
Diabetes mellitus, Prematurely aged appearance, Elevated hemoglobin A1c, Progeroid facial appeara... |
OMIM:277700 |
| Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Ascites |
ORPHA:26790 |
| Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Microtia, third degree, Redundant skin, Hearing impairment, Absent eyelashes, Hyp... |
OMIM:200110 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... |
OMIM:605309 |
| Noonan Syndrome 5 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Fine hair, Small nail, Low-set ears, Thickened helice... |
OMIM:611553 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Cachexia, Hypersplenism, Microvesicular hepatic st... |
ORPHA:275761 |
| Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Edema, Hydrops fetalis, Hemangioma, Ascites |
ORPHA:90308 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
| Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Ascites |
ORPHA:584 |
| Sulfite Oxidase Deficiency, Isolated |
|
Macrotia, Multifocal epileptiform discharges, Fine hair |
OMIM:272300 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Monocytosis, Hemophagocytosis, F... |
OMIM:619644 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Short stature, Female infertility, Mitochondrial hypertrophy, Fa... |
OMIM:619518 |
| Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Pancytopenia, Aplastic anemia, Cryptorchidism, Fine hair, Premature graying of hair, Le... |
OMIM:613990 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Fine hair, Abnormality of skin pigmentation, Hyperkeratosis, Spar... |
ORPHA:1806 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Reticuloc... |
OMIM:275350 |
| Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, D... |
OMIM:300310 |
| Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Splenomegaly, Brittle hair, Sparse hair |
OMIM:252500 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Synophrys, Coarse hair, Hirsutism, Hearing impairment |
OMIM:252920 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Alopecia, Hypospadias, Sparse eyelashes, Failure to thrive, Sm... |
OMIM:264090 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Fatty replacement of skeletal muscle, Generalized amyotrophy, Increased variability in muscle fib... |
ORPHA:52430 |
| 2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Decreased testicular size, Low-set ears, Fine hair |
ORPHA:251019 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos... |
OMIM:260920 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
| Primary Sclerosing Cholangitis |
|
Recurrent systemic pyogenic infections, Hepatomegaly, Splenomegaly, Thyroiditis, Ulcerative colit... |
ORPHA:171 |
| Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Premature skin wrinkling, Abnormal autonomic nervous system physiology, Low-set ears |
OMIM:601559 |
| Osteogenesis Imperfecta, Type Ii |
|
Disproportionate short-limb short stature, Small for gestational age, Thin skin |
OMIM:166210 |
| Nephroblastoma |
|
Weight loss, Neoplasm of the lung, Lymphadenopathy, Neoplasm of the liver, Neoplasm, Nephroblastoma |
ORPHA:654 |
| Microsporidiosis |
|
Brain abscess, Cholangitis, Cachexia, Abnormality of the spleen, Lymphadenitis, Abnormality of th... |
ORPHA:2552 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Osteoarthritis, Pedal edema, Increased circulat... |
ORPHA:77259 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... |
OMIM:251880 |
| Reactive Arthritis |
|
Hyperkeratosis, Dystrophic fingernails, Abnormality of the nail |
ORPHA:29207 |
| Neurotrophic Keratopathy |
|
Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion... |
ORPHA:137596 |
| Dent Disease 1 |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
| Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... |
OMIM:605724 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia, Weight loss |
ORPHA:183 |
| Liposarcoma |
|
Weight loss, Sarcoma |
ORPHA:69078 |
| Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of nail color |
ORPHA:1824 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Posteriorly rotated ears, Progeroid facial appearance, Patchy alopecia, Low-set ears, Sparse hair... |
OMIM:617763 |
| Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Short stature, Aortic root aneurysm, Atrophic scars, Thin skin, Thick eyebrow |
ORPHA:230851 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Hirsutism, Low-set ears, Woolly hai... |
OMIM:619244 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Deep-set nails, Short stature, Thin skin |
OMIM:201170 |
| Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... |
ORPHA:626 |
| Geroderma Osteodysplasticum |
|
Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, ... |
OMIM:231070 |
| Leopard Syndrome 3 |
|
Curly hair, Posteriorly rotated ears, Sensorineural hearing impairment, Low posterior hairline, L... |
OMIM:613707 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus... |
OMIM:214110 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation |
OMIM:600195 |
| Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Primary hyperparathyroidism, Lymphadenopathy, Neoplasm of the lu... |
ORPHA:1332 |
| Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Breast carcinoma, Hepatosplenomegaly, Lym... |
ORPHA:1333 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Fumarase Deficiency |
|
Necrotizing enterocolitis, Decreased fumarate hydratase activity, Polyhydramnios, Conjunctival ic... |
OMIM:606812 |
| Down Syndrome |
|
Prematurely aged appearance, Aganglionic megacolon, Conductive hearing impairment, Abnormality of... |
ORPHA:870 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... |
ORPHA:319487 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... |
OMIM:110100 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin |
ORPHA:735 |
| Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Synophrys, Coarse hair, Hirsutism, Hearing impairment |
OMIM:252900 |
| Intermediate Uveitis |
|
Anterior uveitis, Psoriasiform dermatitis, Cataract, Band keratopathy, Chronic infection, Vasculi... |
ORPHA:279914 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Dysmenorrhea, Postnatal growth retard... |
ORPHA:79240 |
| Glass Syndrome |
|
Short stature, Long eyelashes, Thin skin, Nail dysplasia, Sparse hair |
OMIM:612313 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
| Xfe Progeroid Syndrome |
|
Ascites, Hypoalbuminemia, Defective DNA repair after ultraviolet radiation damage |
OMIM:610965 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Arthritis, Conjunctivitis, Skin rash, Uveitis |
OMIM:120100 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Numerous nevi, Agenesis of pineal gland, Short stature, Prominent scalp veins,... |
ORPHA:536471 |
| Carney Complex |
|
Pituitary growth hormone cell adenoma, Atypical nevi in non-sun exposed areas, Increased body wei... |
ORPHA:1359 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... |
ORPHA:3236 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal hair quantity, Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Juvenile Hyaline Fibromatosis |
|
Aplasia/Hypoplasia of the skin, Abnormal hair morphology, Subcutaneous nodule, Skin ulcer, Papule |
ORPHA:2028 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Diabetes mellitus, Mediastinal lymphadenopathy, Thymoma, Decreased... |
ORPHA:169105 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:602782 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Synophrys, Widow's peak, Thin skin, Thin eyebrow, Cafe-au-lait spot |
OMIM:617804 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
| Pneumocystosis |
|
Weight loss, Neoplasm, Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Weight loss, Neutropenia, Thromb... |
ORPHA:520 |
| Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Urticar... |
ORPHA:634 |
| Kikuchi-Fujimoto Disease |
|
Erythematous macule, Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Papule,... |
ORPHA:50918 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Facial capillary hemangioma, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, An... |
OMIM:274000 |
| Fragile X Syndrome |
|
Chronic otitis media, Folate-dependent fragile site at Xq28, Sinusitis, Otitis media |
ORPHA:908 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
| Congenital Enterovirus Infection |
|
Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Meningitis, Hepatiti... |
ORPHA:292 |
| Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, High-frequency sensorineural hearing impairment, Dry hair, O... |
ORPHA:191 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
| Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... |
ORPHA:347 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis |
OMIM:239000 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Hyperthyroidism, Parotitis, Eosinophilia, Diabetes insipidus, Por... |
ORPHA:797 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:264700 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
| Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hyperconvex nail, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Ovarian cyst, Nail dystr... |
OMIM:614527 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hemoglobin A1c, Sparse eyebrow, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse hair |
OMIM:619127 |
| Glucocorticoid Deficiency 5 |
|
Hyperpigmentation of the skin |
OMIM:617825 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:277440 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Scarring alopecia of scalp, Nail dystrophy |
ORPHA:158684 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Alopecia, Streak ovary, Premature ovarian insufficien... |
ORPHA:3464 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus, Increased circulating antibod... |
ORPHA:411593 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... |
OMIM:106300 |
| Desmosterolosis |
|
Aplasia/Hypoplasia of the skin, Severe short stature, Abnormal cortical gyration, Pachygyria, Spl... |
ORPHA:35107 |
| Cahmr Syndrome |
|
Generalized hypertrichosis |
OMIM:211770 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... |
OMIM:619774 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Synophrys, Hypsarrhythmia, Fine hair, Continuous spike... |
OMIM:619428 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T ce... |
OMIM:215250 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Generalized hirsutism, Cachexia |
ORPHA:1933 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... |
ORPHA:97290 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Cryptorchidism, Low posterior hairline, ... |
ORPHA:163654 |
| Anaplastic Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Lymphadenopathy, Neoplasm of the lung, Malignant neoplasm of the... |
ORPHA:142 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis |
OMIM:619462 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Widow's peak, Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Synophrys, Decreased circulating total IgM, Decreased circulating IgG level, Hirsutism, Decreased... |
OMIM:300861 |
| Camurati-Engelmann Disease |
|
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mineral densi... |
OMIM:131300 |
| Renpenning Syndrome 1 |
|
Brittle hair, Hearing impairment, Cupped ear, Protruding ear, Sparse hair, Macrotia, Decreased te... |
OMIM:309500 |
| Mucopolysaccharidosis, Type Iiic |
|
Splenomegaly, Synophrys, Hypertrichosis, Coarse hair, Hirsutism, Hearing impairment |
OMIM:252930 |
| Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nail dystrophy |
ORPHA:79403 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:619026 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic steatosis, Cachexia |
ORPHA:42 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse eyelashes, Sparse eyebrow, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Sparse... |
OMIM:224900 |
| Hutchinson-Gilford Progeria Syndrome |
|
High-frequency sensorineural hearing impairment, Absent eyebrow, Prominent superficial blood vess... |
ORPHA:740 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
| Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Osteolytic defects of the phalanges... |
ORPHA:2484 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infect... |
OMIM:601495 |
| Copper Deficiency, Familial Benign |
|
Curly hair, Early balding, Anemia |
OMIM:121270 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fa... |
ORPHA:540 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating ant... |
OMIM:617591 |
| Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Peripheral edema, Pleural effusion, Ascites, Hirsutism, Pulmonary edema |
ORPHA:64739 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fa... |
ORPHA:158061 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
High anterior hairline, Long eyelashes, Fine hair |
ORPHA:231137 |
| Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic h... |
OMIM:269200 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Cry... |
OMIM:618000 |
| Lig4 Syndrome |
|
Pancytopenia, Psoriasiform dermatitis, Small for gestational age, Cryptorchidism, Low anterior ha... |
OMIM:606593 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Knee osteoarthritis, Ascites, Osteoarthritis of th... |
ORPHA:2848 |
| Noonan Syndrome 12 |
|
Glabellar hemangioma, Lymphopenia, Decreased response to growth hormone stimulation test, Thrombo... |
OMIM:618624 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Coarse hair, Hearing impairment |
OMIM:616351 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Mixed hearing impairment, Brittle hair, Supernumerary nipple, Cryptorchidism, Optic ... |
OMIM:305600 |
| Caroli Disease |
|
Hepatomegaly, Cholangitis, Conjugated hyperbilirubinemia, Conjunctival icterus, Splenomegaly, Asc... |
ORPHA:53035 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Excessive wri... |
ORPHA:920 |
| Cirrhosis, Familial |
|
Increased level of propylene glycol in blood, Fulminant hepatitis, Ascites |
OMIM:215600 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... |
OMIM:255125 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Myelodysplasia, Lymphadenopathy, Neutropenia, Lymphopenia |
OMIM:617827 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Striae distensae, Abnormal response to corticotropin ... |
ORPHA:189427 |
| Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Optic nerve hypoplasia, Decreased response to growt... |
OMIM:615280 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Cryptorchidism, Fine hair, Hypogonadism, Low-set ears |
ORPHA:228390 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails |
ORPHA:77258 |
| Congenital Sialidosis Type 2 |
|
Hepatomegaly, Edema, Hepatosplenomegaly, Generalized hypertrichosis, Ascites |
ORPHA:93400 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... |
OMIM:194072 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
| Lymphangioleiomyomatosis |
|
Renal neoplasm, Recurrent respiratory infections, Lymphedema, Retinal hamartoma, Renal angiomyoli... |
ORPHA:538 |
| Hypoglossia With Situs Inversus |
|
Asplenia, Polysplenia |
OMIM:612776 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy |
OMIM:614748 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Increased circulating IgG level, Abn... |
ORPHA:2298 |
| Farber Disease |
|
Recurrent upper respiratory tract infections, Hydrops fetalis, Hepatosplenomegaly, Arthritis, Abn... |
ORPHA:333 |
| Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Lymphadenopathy |
ORPHA:50251 |
| Noonan Syndrome 8 |
|
Palmoplantar cutis laxa, Curly hair, Low-set ears, Cryptorchidism |
OMIM:615355 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, B-cell lymphoma, Follicular hyperplasia, Splenomegaly, Hep... |
OMIM:619381 |
| Costello Syndrome |
|
Deep-set nails, Low-set, posteriorly rotated ears, Abnormal fingernail morphology, Redundant skin... |
ORPHA:3071 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Lymphad... |
ORPHA:100026 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... |
OMIM:620351 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... |
OMIM:241600 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Immotile sperm, Abdominal s... |
OMIM:614874 |
| Mogs-Cdg |
|
Hepatomegaly, Alopecia, Fair hair, Hirsutism, Decreased circulating antibody level, Hepatosplenom... |
ORPHA:79330 |
| Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Sparse hair, Hepati... |
ORPHA:3455 |
| Adult-Onset Still Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Hepatitis, B... |
ORPHA:829 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Polyhydramnios, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethionine... |
OMIM:617156 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion |
OMIM:278740 |
| Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Ectropion, Recurrent skin infections, Cataract, Corneal erosi... |
ORPHA:33001 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating copper concent... |
OMIM:242150 |
| Helsmoortel-Van Der Aa Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Obesity, Pi... |
OMIM:615873 |
| Tonne-Kalscheuer Syndrome |
|
Concave nail, Cryptorchidism, Fine hair, Small nail, Decreased testicular size |
OMIM:300978 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Orthostatic hypotension, Decreased adipos... |
OMIM:606721 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Dorsocervical fat pad, Synophrys, Sensorineural hearing impairment, Low anteri... |
ORPHA:391408 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss |
ORPHA:99868 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Splenomegaly, Jaundice, Sensorineural hearing impairment, Low anterior hairline, Excessive wrinkl... |
OMIM:608779 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Vascular Ehlers-Danlos Syndrome |
|
Subcutaneous nodule, Uterine rupture, Macule, Alopecia, Peripheral arteriovenous fistula, Hypospa... |
ORPHA:286 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Cachexia, Visceral angiomatosis, Lymphoma, Hamartomatous polyposi... |
ORPHA:109 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
| Vici Syndrome |
|
Decreased circulating IgG level, Failure to thrive, Hypopigmentation of hair, Albinism, Decreased... |
OMIM:242840 |
| Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... |
OMIM:190350 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, A... |
ORPHA:85410 |
| Wilson Disease |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, Edema, Splenomegal... |
OMIM:277900 |
| Cogan Syndrome |
|
Episcleritis, Aortic regurgitation, Keratitis, Vasculitis, Uveitis, Large vessel vasculitis, Scle... |
ORPHA:1467 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Sepsis, Hypocalcemia, Elevated hepatic iron concentration, Hyponatre... |
OMIM:619991 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmental cataract, Micr... |
OMIM:175780 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Sparse eyebrow, Synophrys, Sensorineural hearing impairment, Hyposegmentation of neut... |
OMIM:620075 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Dry hair, Prematurely aged appearance, Abnormal pinna morpho... |
OMIM:216400 |
| Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
| Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
| Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
| Cowden Syndrome 1 |
|
Hyperthyroidism, Goiter, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcinoma, Ha... |
OMIM:158350 |
| Fetal Hydantoin Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Cryptorchidism, Low posterior hairl... |
ORPHA:1912 |
| Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Cryptorchidism, Alopecia, Focal dermal aplasia/hypoplasia |
OMIM:164180 |
| Fanconi Anemia, Complementation Group N |
|
Epicanthus, Nephroblastoma, Medulloblastoma, Neuroblastoma, Chromosomal breakage induced by cross... |
OMIM:610832 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, ... |
ORPHA:391487 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal pinna morphology, Abnormal hair pattern, Sparse eyebrow, Scarring alop... |
ORPHA:35173 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
| Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Anemia, Refractory anemia with ringed sideroblasts, Reduced hemato... |
OMIM:619523 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
EEG abnormality, Brittle hair, Hearing impairment |
OMIM:124000 |
| Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Non-Hodgkin lymphoma, Lymphoproliferative disorder, Small for gestational age,... |
ORPHA:1830 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, ... |
ORPHA:71493 |
| Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98754 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
| Arterial Tortuosity Syndrome |
|
Carotid artery dissection, Pulmonary artery stenosis, Aortic root aneurysm, Ischemic stroke, Thin... |
OMIM:208050 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl... |
OMIM:613385 |
| Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Weight loss |
ORPHA:33577 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
OMIM:259600 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Atrophic scars, Thin skin, Prominent superficial veins |
OMIM:130080 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormal cortical bone morphology |
OMIM:614886 |
| Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Supernumerary nipple, Low anterior hairline, Low posterior hairline, Long eyelashes, Dystrophic t... |
OMIM:604314 |
| Xeroderma Pigmentosum, Variant Type |
|
Entropion, Keratitis, Cutaneous telangiectasia, Conjunctivitis, Ectropion |
OMIM:278750 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... |
OMIM:157640 |
| Ogden Syndrome |
|
Redundant neck skin, Prematurely aged appearance, Redundant skin, Facial wrinkling, Maternal diab... |
OMIM:300855 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
| Arterial Tortuosity Syndrome |
|
Pulmonary artery stenosis, Arterial stenosis, Aortic root aneurysm, Abnormal carotid artery morph... |
ORPHA:3342 |
| 46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
| Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair, Cryptorchidism |
OMIM:616559 |
| Pachydermoperiostosis |
|
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, Abnormal cortic... |
ORPHA:2796 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98793 |
| Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
| Cornelia De Lange Syndrome |
|
Highly arched eyebrow, Curly eyelashes, Synophrys, Increased nuchal translucency, Low anterior ha... |
ORPHA:199 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Follicular thyroid carcinoma, Abnormal abd... |
ORPHA:97282 |
| Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Meningitis, Arthritis, Conjunctivitis, Lens subluxation, Infe... |
ORPHA:448237 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177901 |
| Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
| Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Neoplasm of the thymus, Abnormal abdomen m... |
ORPHA:97261 |
| Whim Syndrome |
|
Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Papilloma, C... |
ORPHA:51636 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... |
ORPHA:221139 |
| Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Hypogonadism, Delayed puberty, Slender build, A... |
ORPHA:1328 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Optic disc pallor, Acanthocytosis, Prominent antihelix, Poikilocytosis, Premat... |
OMIM:618947 |
| Adrenomyeloneuropathy |
|
Frontal balding, Primary adrenal insufficiency, Fine hair, Adrenocorticotropic hormone excess, Ma... |
ORPHA:139399 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Synophrys, Pleural effusion, Ascites, Do... |
OMIM:620369 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Intracran... |
ORPHA:90795 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Pleural effusion, Ascites |
OMIM:617397 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Sensorineural hearing impairment, Progeroid facial appearance |
ORPHA:50811 |
| Braddock-Carey Syndrome 1 |
|
Curly hair, Posteriorly rotated ears, Sparse hair, Macrotia, Thrombocytopenia |
OMIM:619980 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Synophrys, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:619260 |
| Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Short stature, Leukocytosis, Abdominal obesity, Hypoplasia of the ovary, Intrauterine g... |
OMIM:619321 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... |
OMIM:250250 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Chronic active hepatitis, Hypergonadotropi... |
OMIM:203800 |
| Multiple Sulfatase Deficiency |
|
Thick eyebrow, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Coarse hair, Abnorm... |
ORPHA:585 |
| Lyme Disease |
|
Meningitis, Atrioventricular block, Uveitis, Arthritis, Arrhythmia, Infectious encephalitis |
ORPHA:91546 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Alopecia, Lymphoma, Thyroiditis, Weight loss, Iron deficiency anemia, Delayed ... |
OMIM:212750 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Primary testicular failure, Oligozoospermia, Hepatosplenomegaly, ... |
ORPHA:85450 |
| Muckle-Wells Syndrome |
|
Maculopapular exanthema, Elevated circulating C-reactive protein concentration, Conjunctivitis, R... |
OMIM:191900 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Iron deficiency anemia, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Anemia |
ORPHA:79408 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Bilateral cryptorchidism,... |
OMIM:242900 |
| Fanconi Anemia, Complementation Group O |
|
Chromosome breakage |
OMIM:613390 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Thoracic aortic aneurysm, Postnatal growth retardation, Ascending tubular aorta aneurysm, Atrophi... |
ORPHA:536467 |
| Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... |
ORPHA:744 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Cachexia, Abnormal hair pattern, Synophrys, Obesity, Hypogonadism, Decreased testicular size |
ORPHA:85293 |
| Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Syn... |
OMIM:186580 |
| Ayme-Gripp Syndrome |
|
Sparse scalp hair, Nail dystrophy, Broad eyebrow |
OMIM:601088 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair, Facial palsy |
OMIM:256850 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia |
OMIM:607944 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Polysplenia, Reduced progressive sperm motility |
OMIM:619608 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Abnormal abdomen morphology, Pituitary ade... |
ORPHA:97278 |
| Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
| Ogden Syndrome |
|
Cryptorchidism, Cutis laxa, Fine hair, Low-set ears, Macrotia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:276432 |
| Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... |
ORPHA:763 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
| Neuroocular Syndrome |
|
Brittle hair, Highly arched eyebrow, Unilateral deafness, Synophrys, Cupped ear, Anterior creases... |
OMIM:619539 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog... |
OMIM:241080 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Dry hair, Prematurely aged appearance, Abnormal pinna morpho... |
OMIM:133540 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Trichiasis, Acantholysis, Anemia, Nail dystrophy, Neutropenia, Anonychia, Hypopigmentation of the... |
ORPHA:95455 |
| Avian Influenza |
|
Pneumonia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:454836 |
| Noonan Syndrome 14 |
|
Curly hair, Lymphopenia, Posteriorly rotated ears, Sparse eyebrow, Cryptorchidism, Low posterior ... |
OMIM:619745 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Epicanthus, Polyhydramnios, Hamartoma of tongue, Edema, Splenomegaly, Hypoplastic n... |
OMIM:269860 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Erythematous papule, Dermal atrophy, Sparse lateral eyebrow |
ORPHA:3406 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Hodgkin lymphoma, Neutropenia, Lymphop... |
OMIM:614868 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Failure to thrive, Short attention span, Short stature, Highly ... |
OMIM:613563 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... |
ORPHA:3206 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... |
OMIM:612949 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... |
ORPHA:249 |
| Geroderma Osteodysplastica |
|
Growth delay, Severe short stature, Thin skin |
ORPHA:2078 |
| Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Short stature, Immotile sperm, Abnormal central microtubular pair morphol... |
OMIM:612650 |
| Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Astrocytoma, Abnormality of the endocrine system, Cryptorchidism, Precoci... |
ORPHA:636 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Small scrotum, Aplasia/Hypoplasia of the skin, Nevus, Short stature, Cryptor... |
ORPHA:2990 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Precocious puberty, Cryptorchidism, Obesity, Premature ad... |
ORPHA:813 |
| Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... |
OMIM:614878 |
| Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Vasculitis, Uveitis, Arthritis, Conjunctivitis, Recurrent aphthous stoma... |
ORPHA:575 |
| Adams-Oliver Syndrome 4 |
|
Hypoplastic toenails, Aplasia cutis congenita, Patent ductus arteriosus, Toenail dysplasia |
OMIM:615297 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia, Ascites |
OMIM:259720 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Portal hypertension, Splenomegaly, Leuk... |
OMIM:615688 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Alopecia, Urinary bladder inflammation, Xerostomia, Bronchiectasis, Recurrent infectio... |
ORPHA:99921 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Epicanthus, Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Polyhydramnios, Increased nuchal ... |
ORPHA:1052 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Paronychia, Nail dystrophy, Anonychia, Abnormality of the nail, Anemia |
ORPHA:79404 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... |
OMIM:613027 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjun... |
OMIM:142680 |
| Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter |
OMIM:232800 |
| Noonan Syndrome 4 |
|
Curly hair, Posteriorly rotated ears, Sparse eyebrow, Cryptorchidism, Low-set ears, Thickened hel... |
OMIM:610733 |
| Oculocerebrocutaneous Syndrome |
|
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Cryptorchidi... |
ORPHA:1647 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
| Fanconi Anemia, Complementation Group P |
|
Blepharophimosis, Chromosomal breakage induced by crosslinking agents, Short palpebral fissure, S... |
OMIM:613951 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Epicanthus, Abnormality of chromosome stability, Sparse eyebrow, Decreased circulat... |
ORPHA:175 |
| Peutz-Jeghers Syndrome |
|
Melanonychia, Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Multiple lentigines, Anemia |
ORPHA:2869 |
| Alg9-Cdg |
|
Hepatomegaly, Rhizomelia, Low posterior hairline, Periportal fibrosis, Bicornuate uterus, Hypopla... |
ORPHA:79328 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Redundant skin, Lack of skin elasticity, Protruding ear, Excessive w... |
OMIM:612940 |
| Mccune-Albright Syndrome |
|
Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased circulating cortisol leve... |
ORPHA:562 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... |
OMIM:620005 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cryptorchidism, Elevated circulat... |
OMIM:615381 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Abnormal abdomen morphology, Pituitary ade... |
ORPHA:97283 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Microvesicular hepatic steatosis, S... |
OMIM:619418 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus |
OMIM:617022 |
| Rothmund-Thomson Syndrome |
|
Aplasia/Hypoplasia of the skin, Aplastic anemia, Sparse eyelashes, Alopecia totalis, Small for ge... |
ORPHA:2909 |
| Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Skin rash, Hypercalcemia, Abnormal abdomen morphology, Pi... |
ORPHA:97280 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Uveitis, Developmental cataract |
OMIM:617044 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Castleman Disease |
|
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Follicular hyperp... |
ORPHA:160 |
| Smith-Kingsmore Syndrome |
|
Curly hair, Large for gestational age, Cryptorchidism, Thrombocytopenia, Decreased circulating Ig... |
OMIM:616638 |
| Cleidocranial Dysplasia |
|
Spina bifida occulta, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1452 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis |
ORPHA:94089 |
| Malt Lymphoma |
|
B-cell lymphoma, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Weight loss, Lymp... |
ORPHA:52417 |
| Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
| Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin... |
ORPHA:727 |
| Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... |
ORPHA:209959 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Hyphema, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anteri... |
OMIM:221900 |
| Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Menorrhagia |
ORPHA:168816 |
| Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Budd-Chiari Syndrome |
|
Hepatomegaly, Splenomegaly, Peritonitis, Cholecystitis, Ascites |
ORPHA:131 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture, Cryptorchidism, Protruding ear, Overfolded... |
ORPHA:96169 |
| Renal Nutcracker Syndrome |
|
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Varicose veins, Infertility, Renal ... |
ORPHA:71273 |
| Acrofacial Dysostosis, Palagonia Type |
|
Aplasia/Hypoplasia of the skin, Sparse eyelashes, Short stature, Low anterior hairline, Dermal at... |
ORPHA:1787 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal venous morphology, Abnormal cerebral vascular morphology, Abnormality of the lymphatic s... |
ORPHA:276280 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, Anemia, Leu... |
OMIM:603553 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
| Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Cry... |
ORPHA:739 |
| Polycythemia Vera |
|
Hepatomegaly, Myelodysplasia, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight l... |
ORPHA:729 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Hepa... |
ORPHA:2072 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegaly, Hepatosplenomegaly, Ascites |
OMIM:608013 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Subcutaneous lipoma, Cachexia, Hamartomatous polyposis, Hemangioblastoma, Hema... |
ORPHA:79076 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Recurrent urinary tract infections, Anasarca, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbi... |
OMIM:613658 |
| Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
| Hall-Riggs Syndrome |
|
Coarse hair, Slow-growing hair, Thick hair |
ORPHA:2107 |
| Rothmund-Thomson Syndrome Type 1 |
|
Premature ovarian insufficiency, Aplastic anemia, Alopecia totalis, Small for gestational age, Sh... |
ORPHA:221008 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Cardiofaciocutaneous Syndrome 3 |
|
Curly hair |
OMIM:615279 |
| Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones |
OMIM:127000 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis |
OMIM:618476 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat... |
OMIM:233710 |
| Q Fever |
|
Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia, Lymphadenopathy, Weight loss, ... |
ORPHA:781 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
| Mitchell-Riley Syndrome |
|
Ascites, Hyperbilirubinemia |
OMIM:615710 |
| Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
| Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Weight loss, Anemia, Decreased circulating complement C3 concentration, Decreased c... |
ORPHA:90060 |
| Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Hyperkeratoti... |
ORPHA:79100 |
| Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
| Optic Atrophy 11 |
|
Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping |
OMIM:617302 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Severe short stature, Thin skin |
ORPHA:1901 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegal... |
OMIM:276700 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, Sarcoma |
ORPHA:44890 |
| Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Meningitis, Osteoarthritis, Peritonitis, Splenomegaly, Pedal e... |
ORPHA:342 |
| Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
| Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility, Short stature, Abnormal central microtubular pair morphology of respirato... |
OMIM:612649 |
| Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... |
ORPHA:29073 |
| Chops Syndrome |
|
Curly hair, Thick hair, Cryptorchidism, Synophrys, Splenomegaly, Optic atrophy, Coarse hair, Long... |
OMIM:616368 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Cryptorchidism, Abnormality of the end... |
ORPHA:166035 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Optic atrophy, Cutis laxa, Fine hair, Thick eyebrow |
OMIM:614800 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Short stature, Cerebral hemorrhage, Synophrys, Subdural hemorrhage, Atypical scarring of skin, Th... |
ORPHA:536545 |
| Fusariosis |
|
Brain abscess, Lung abscess, Hematological neoplasm, Abnormality of the spleen, Peritonitis, Paro... |
ORPHA:228119 |
| Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Absent eyelashes, Cryptorchidism, Abnormal hair morphology, P... |
ORPHA:861 |
| Dent Disease |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Recurrent urinary tract infections, Cholangitis, Splenomegaly, Recurrent pneumonia,... |
ORPHA:731 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... |
ORPHA:2658 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
| Livedoid Vasculopathy |
|
Pancytopenia, Diabetes mellitus, Abnormal capillary morphology, Venous insufficiency, Leukocytosi... |
ORPHA:542643 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Monoclonal elevation of circulating IgA, B-cell lymphoma, Monoclonal elevation o... |
ORPHA:91139 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Lymphaden... |
OMIM:214500 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Fine hair, Microtia, Long eyelashes, Macrotia, Hearing impairment |
OMIM:620250 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, White eyelashes, White eyebrow, Aganglionic megacolon, Short... |
OMIM:609136 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Coarse hair, Optic atrophy |
ORPHA:1185 |
| Loeys-Dietz Syndrome |
|
Aortic dissection, Arterial tortuosity, Vascular dilatation, Patent ductus arteriosus, Atypical s... |
ORPHA:60030 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow h... |
ORPHA:508542 |
| Kosaki Overgrowth Syndrome |
|
Xanthelasma, Thin skin, Progressive neurologic deterioration |
OMIM:616592 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat... |
OMIM:233690 |
| Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion |
OMIM:278720 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Abnormality of the menstrual cycle, Venous insufficiency, Subcutaneous nodule, Cystocele, Decreas... |
ORPHA:285 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
| Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Erythema no... |
ORPHA:99827 |
| Systemic Capillary Leak Syndrome |
|
Leukocytosis, Pancreatitis, Multiple myeloma, Weight loss |
ORPHA:188 |
| Native American Myopathy |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... |
ORPHA:168572 |
| Cinca Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal granulocyte mor... |
ORPHA:1451 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Thrombocytopenia, Synophrys, Splenomegaly, Low anterior hairline, Optic atrophy, Low posterior ha... |
OMIM:617303 |
| Brucellosis |
|
Hepatomegaly, Liver abscess, Lung abscess, Small for gestational age, Hypersplenism, Thrombocytop... |
ORPHA:1304 |
| Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Lymphadenopathy |
ORPHA:79456 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly |
OMIM:612852 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cachexia |
ORPHA:220295 |
| Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Decreased response to growth hormone stimulation test, Alopecia totalis, Central a... |
OMIM:615577 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Metrorrhagia, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality ... |
ORPHA:464329 |
| Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Generalized joint laxity, Decreased calvarial ossification, Thin bony c... |
OMIM:613848 |
| Diamond-Blackfan Anemia 21 |
|
Cutis marmorata, Erythroid hypoplasia, Synophrys, Widow's peak, Thrombocytopenia, Protruding ear,... |
OMIM:620072 |
| Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1214 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:604377 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre... |
ORPHA:3440 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea |
ORPHA:2795 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenome... |
ORPHA:75565 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Conjunctivitis, Lacrimal duct atresia, Lacrimal duct aplasia |
OMIM:620192 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Pericardial effusion, Hepatomegaly, Ascites, Pulmonary edema |
OMIM:115197 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Neoplasm, D... |
ORPHA:760 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Neutropenia, Abnormal lymphatic vessel morphology, Leukopenia,... |
ORPHA:2330 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Aplasia/Hypoplasia of the skin, Hyperconvex fingernails, Dermal atrophy, Skin vesicle, ... |
ORPHA:257 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Curly hair, Prematurely aged appearance, Thickened helices, ... |
OMIM:619950 |
| Leopard Syndrome 1 |
|
Hypospadias, Short stature, Cryptorchidism, Micropenis, Webbed neck, Hypoplasia of the ovary, Mul... |
OMIM:151100 |
| Milroy Disease |
|
Hydrocele testis, Varicose veins, Abnormal venous morphology, Toenail dysplasia |
ORPHA:79452 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Legionnaires Disease |
|
Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan... |
ORPHA:549 |
| Carney Triad |
|
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... |
ORPHA:139411 |
| Schwartz-Jampel Syndrome |
|
Abnormal eyebrow morphology, Long eyelashes in irregular rows, Cachexia, Low anterior hairline, G... |
ORPHA:800 |
| Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Protruding ear, Low... |
ORPHA:90348 |
| Perlman Syndrome |
|
Renal hamartoma, Polyhydramnios, Edema, Nephroblastomatosis, Nephroblastoma, Ascites, Visceromegaly |
OMIM:267000 |
| 2P15P16.1 Microdeletion Syndrome |
|
Facial palsy, Supernumerary nipple, Optic nerve hypoplasia, Sparse eyebrow, Optic atrophy, Fine h... |
ORPHA:261349 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Anomalous origin of one pulmo... |
ORPHA:3384 |
| Noonan Syndrome 7 |
|
Curly hair, Low posterior hairline, Large earlobe, Low-set ears, Thickened helices |
OMIM:613706 |
| Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Hypopigmented skin patches |
ORPHA:220402 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Hematolo... |
ORPHA:3243 |
| Acrofacial Dysostosis, Catania Type |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Coarse hair, Abnormal hair pattern |
ORPHA:1786 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Splenomegaly, Hyperinsulinemia, Failure to thrive, Hepatic steatosis, Hirsutism, De... |
OMIM:613327 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Glioma, Dysgammaglobulinemia, Rhabdomyosarcoma, Lymphoma, Medullobla... |
OMIM:251260 |
| Gm1-Gangliosidosis, Type Ii |
|
Thin bony cortex, Joint stiffness |
OMIM:230600 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Conductive hearing impairment, Coarse hair, Low anterior hairline, Generalized hirsutism |
ORPHA:2095 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse scalp hair, Sparse eyelashes, Short stature, Hypoplastic pilosebaceous units, Sparse eyebr... |
OMIM:601345 |
| Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Recurrent upper and lower r... |
OMIM:620014 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Reduced bone... |
ORPHA:89936 |
| Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr... |
ORPHA:502423 |
| Familial Osteodysplasia, Anderson Type |
|
Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures |
ORPHA:2769 |
| Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
| Acrocephalopolydactylous Dysplasia |
|
Upslanted palpebral fissure, Hepatomegaly, Epicanthus, Ascites |
OMIM:200995 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Redundant neck skin, Posteriorly rotated ears, Highly arched eyebrow, Low posterior h... |
OMIM:617360 |
| X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
| Familial Multiple Nevi Flammei |
|
Hypermelanotic macule, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arteriovenous m... |
ORPHA:624 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... |
ORPHA:1215 |
| Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
| Thanatophoric Dysplasia Type 1 |
|
Excessive wrinkled skin, Redundant skin, Hearing impairment |
ORPHA:1860 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter |
OMIM:615595 |
| Sclerosing Cholangitis, Neonatal |
|
Splenomegaly, Sclerosing cholangitis, Ascites, Hepatomegaly |
OMIM:617394 |
| Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Precocious puberty, Ependymoma, Gingival... |
OMIM:613254 |
| Fanconi Anemia |
|
Epicanthus, Recurrent urinary tract infections, Abnormality of chromosome stability, Myelodysplas... |
ORPHA:84 |
| Laron Syndrome |
|
Abnormality of the endocrine system, Prematurely aged appearance, Delayed puberty |
ORPHA:633 |
| Keppen-Lubinsky Syndrome |
|
Premature skin wrinkling, Decreased testicular size, Progeroid facial appearance |
ORPHA:435628 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... |
OMIM:610377 |
| Seckel Syndrome |
|
Sparse scalp hair, Prematurely aged appearance, Absent earlobe, Abnormal earlobe morphology |
ORPHA:808 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:79085 |
| 12Q14 Microdeletion Syndrome |
|
Osteopoikilosis |
ORPHA:94063 |
| Malakoplakia |
|
Follicular hyperplasia, Orchitis, Abnormality of the menstrual cycle, Subcutaneous nodule, Skin u... |
ORPHA:556 |
| Neuroblastoma, Susceptibility To, 1 |
|
Ganglioneuroblastoma, Weight loss, Neuroblastoma, Failure to thrive, Ganglioneuroma, Anemia |
OMIM:256700 |
| Trisomy 20P |
|
Low-set, posteriorly rotated ears, Thick hair, Highly arched eyebrow, Cryptorchidism, Low anterio... |
ORPHA:261318 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Sensorineural hearing impairment, Coarse hair, Low-set ears, Nail dysplasia, Bruising susceptibil... |
OMIM:612394 |
| Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Macrotia, Hyperconvex thumb nails, Fine hair |
ORPHA:3079 |
| Superficial Epidermolytic Ichthyosis |
|
Thin skin |
ORPHA:455 |
| Antiphospholipid Syndrome, Familial |
|
Keratitis, Scleritis, Iritis |
OMIM:107320 |
| Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy |
OMIM:616720 |
| Digeorge Syndrome |
|
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypothyroidism, Hep... |
OMIM:188400 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab... |
ORPHA:90652 |
| Xq28 (MECP2) duplication |
|
Failure to thrive, Decreased circulating IgA level |
DECIPHER:45 |
| Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Macrotia, Cryptorchidism |
OMIM:619435 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Optic nerve hypoplasia, Fine hair |
ORPHA:363686 |
| Rett Syndrome |
|
Cachexia |
OMIM:312750 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Brain abscess, Increased circulating interleukin 6 concentration, Generalized edema... |
ORPHA:544482 |
| Fraser Syndrome 3 |
|
Ascites, Nonimmune hydrops fetalis, Cryptophthalmos, Oligohydramnios |
OMIM:617667 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... |
ORPHA:568051 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Low-set ... |
OMIM:613451 |
| Familial Adenomatous Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
| Even-Plus Syndrome |
|
Severe short stature, Highly arched eyebrow, Synophrys, Sparse hair, Aplasia cutis congenita |
OMIM:616854 |
| Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Recurrent upper respiratory tract infections, Conjunctivitis, Per... |
OMIM:217090 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atyp... |
ORPHA:100080 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Increased circulating ACTH level, Weight los... |
ORPHA:100075 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
| Lassa Fever |
|
Facial edema, Increased circulating IgM level, Conjunctivitis, Sepsis |
ORPHA:99824 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Weight ... |
ORPHA:2126 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair, Cryptorchidism |
ORPHA:457485 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
| Galloway-Mowat Syndrome 9 |
|
Coarse hair, Macrotia, Low-set ears |
OMIM:619603 |
| Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Distal amyotrophy, Increased variability in muscle fiber diame... |
OMIM:164310 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers |
ORPHA:70595 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Failure to thrive, Anemia, Weight loss |
ORPHA:1842 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Eisenmenger Syndrome |
|
Brain abscess, Hepatomegaly, Elevated circulating C-reactive protein concentration, Pedal edema, ... |
ORPHA:97214 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss, Lymphadenopathy |
ORPHA:411703 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
| Papa Syndrome |
|
Increased circulating antibody level, Lymphadenopathy |
ORPHA:69126 |
| Sweeney-Cox Syndrome |
|
Asplenia, Bilateral cryptorchidism, Widow's peak, Low anterior hairline, Small nail, Generalized ... |
OMIM:617746 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Splenomegaly, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia |
OMIM:267700 |
| Dubowitz Syndrome |
|
Low-set, posteriorly rotated ears, Sparse scalp hair, Hypoparathyroidism, Abnormal fingernail mor... |
ORPHA:235 |
| Clapo Syndrome |
|
Varicose veins, Nevus flammeus, Lymphangioma, Failure to thrive, Venous malformation |
ORPHA:168984 |
| Senior-Boichis Syndrome |
|
Hepatosplenomegaly, Ascites, Increased total bilirubin |
ORPHA:84081 |
| Gallbladder Neuroendocrine Tumor |
|
Neoplasm of the nervous system, Ascites, Neuroendocrine neoplasm, Cholecystitis |
ORPHA:100086 |
| Koolen-De Vries Syndrome |
|
Abnormality of hair texture, Anteverted ears, Cryptorchidism, Macrotia, Dry skin, Overfolded heli... |
OMIM:610443 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Generalized Pustular Psoriasis |
|
Pustule, Congestive heart failure, Cheilitis, Uveitis, Sepsis, Arthritis, Palmoplantar pustulosis... |
ORPHA:247353 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Thrombocytopenia, Weight loss |
ORPHA:79242 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemi... |
ORPHA:276152 |
| Orofaciodigital Syndrome Type 3 |
|
Low-set ears, Abnormality of hair texture |
ORPHA:2752 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex |
OMIM:309583 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy |
OMIM:616538 |
| Ascites, Chylous |
|
Chylous ascites |
OMIM:208300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... |
OMIM:613150 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Capillary malformation, Venous malformation, Webbed neck |
OMIM:612918 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Ascites, Hyperbilirubinemia |
ORPHA:464321 |
| Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
| Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uve... |
ORPHA:728 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia |
OMIM:613177 |
| Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Sensorineural hearing impairment, Aplasia/Hypoplasia of the earlobes, Fine ha... |
ORPHA:2637 |
| Osteogenesis Imperfecta, Type I |
|
Thin skin, Aortic aneurysm |
OMIM:166200 |
| Relapsing Fever |
|
Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Liver abscess, Diabetes mellitus, Cholangitis, Lymphoma, Recurrent tonsillitis, ... |
ORPHA:183675 |
| Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
| Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal hair pattern, Synophrys, Low posterior hairline, Coar... |
ORPHA:1394 |
| Desmoid Tumor |
|
Fibroma, Neoplasm of the skin, Desmoid tumors |
ORPHA:873 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Megaloblastic anemia, Hypogonadism, Abnormality of hair texture |
ORPHA:79351 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Pancreatic cysts, Aortic root aneurysm, Dilatation of the cerebral arte... |
ORPHA:730 |
| Biotinidase Deficiency |
|
Alopecia, Skin rash, Recurrent viral infections, Hyperammonemia, Recurrent candida infections, Co... |
ORPHA:79241 |
| Raine Syndrome |
|
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation |
OMIM:259775 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, Ascites, Pulmonary edema |
OMIM:261740 |
| Fanconi Anemia, Complementation Group I |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609053 |
| Genitopatellar Syndrome |
|
Sparse scalp hair, Cryptorchidism, Fine hair, Low-set ears, Hearing impairment |
ORPHA:85201 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
| Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Cryptorchidism, Abdominal situs inversus, Aplasia/Hypoplasia of the nails |
OMIM:619123 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia |
OMIM:209920 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... |
ORPHA:97287 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... |
OMIM:614576 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... |
ORPHA:786 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Melanocytic nevus, Oligozoospermia, Varicose veins, Keloids |
OMIM:314300 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Lymphoproliferative disorder, Parotitis, Lymphoma, T... |
ORPHA:289390 |
| Nocardiosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Dacryocystitis, ... |
ORPHA:31204 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Aspiration pneumonia, Ascites |
OMIM:301072 |
| Dermatomyositis |
|
Abnormal hair quantity, Abnormal eosinophil morphology, Gastrointestinal stroma tumor, Lymphoma, ... |
ORPHA:221 |
| Familial Colorectal Cancer Type X |
|
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... |
ORPHA:440437 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Increas... |
OMIM:263400 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Progeroid facial appearance, Cryptorchidism, Macrotia, Optic... |
ORPHA:90321 |
| Fraser Syndrome 2 |
|
Hypoplasia of the thymus |
OMIM:617666 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr... |
ORPHA:319218 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis |
ORPHA:35687 |
| Pyomyositis |
|
Recurrent cutaneous abscess formation, Leukocytosis, Weight loss, Testicular teratoma |
ORPHA:764 |
| Atresia Of Urethra |
|
Recurrent urinary tract infections, Ascites, Oligohydramnios |
ORPHA:105 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion |
OMIM:278700 |
| Pseudoxanthoma Elasticum |
|
Telangiectasia of the skin, Lack of skin elasticity, Excessive wrinkled skin, Bruising susceptibi... |
ORPHA:758 |
| Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy |
ORPHA:99978 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy |
OMIM:619424 |
| Ciliary Dyskinesia, Primary, 22 |
|
Reduced sperm motility, Infertility, Absent inner and outer dynein arms |
OMIM:615444 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Recurrent pharyngitis, Peritonitis, Vascu... |
ORPHA:32960 |
| Noonan Syndrome 2 |
|
Curly hair, Posteriorly rotated ears, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Low... |
OMIM:605275 |
| Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... |
ORPHA:355 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, White hair, Fine hair, Agammaglobulinemia, Lymphopenia, Anemia |
ORPHA:935 |
| Scalp-Ear-Nipple Syndrome |
|
Posteriorly rotated ears, Sparse axillary hair, Underdeveloped antitragus, Sparse pubic hair, Ant... |
OMIM:181270 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Sparse h... |
ORPHA:2108 |
| Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atyp... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atyp... |
ORPHA:100082 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
| Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Cholelithiasis, Splenomegaly, Synophrys, EEG abnormality, Coarse hair, Long eyelashes... |
OMIM:618268 |
| Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... |
ORPHA:288 |
| Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy |
OMIM:617675 |
| Trisomy 18 |
|
Cryptorchidism, Abnormal toenail morphology, Cachexia |
ORPHA:3380 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture |
ORPHA:88618 |
| Viss Syndrome |
|
Exostosis of the external auditory canal, Sparse scalp hair, Alopecia, Increased circulating IgE ... |
OMIM:619472 |
| Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Failure to thrive, Short stature, Chronic neutropenia, Hypothyroidism, Delayed pube... |
ORPHA:79259 |
| Noonan Syndrome With Multiple Lentigines |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Decreased fe... |
ORPHA:500 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent respiratory infections, Epicanthus, Telecanthus, Thick hair, Sepsis, Hepatosplenomegaly... |
ORPHA:505248 |
| Fanconi Anemia, Complementation Group C |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage induced by crossl... |
OMIM:227645 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Anemia, Congenital hypoparathyroidism, Decreased testicular size, Abnormal circulating follicle-s... |
ORPHA:93325 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:169090 |
| Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:409 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Fanconi Anemia, Complementation Group L |
|
Upslanted palpebral fissure, Chromosome breakage, Chromosomal breakage induced by crosslinking ag... |
OMIM:614083 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail, Aplasia cutis congenita, Polymicrogyria |
OMIM:614219 |
| Mixed Connective Tissue Disease |
|
Hemolytic anemia, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia |
ORPHA:809 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
| Gm1 Gangliosidosis |
|
Splenomegaly, Weight loss, Hepatosplenomegaly, Failure to thrive, Generalized hirsutism, Hirsutism |
ORPHA:354 |
| Pseudohypoparathyroidism Type 1A |
|
Hyperostosis frontalis interna, Ectopic ossification, Increased bone mineral density, Reduced bon... |
ORPHA:79443 |
| Noonan Syndrome |
|
Abnormal hair quantity, Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Aplasia... |
ORPHA:648 |
| Lymphedema-Distichiasis Syndrome |
|
Ptosis, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Yellow nails,... |
OMIM:153400 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Edema, Polyhydramnios, Conjugated hyperbilirubine... |
OMIM:619534 |
| Mucopolysaccharidosis, Type Iiid |
|
Splenomegaly, Synophrys, Hirsutism, Coarse hair, Low-set ears, Facial hirsutism, Thick eyebrow, H... |
OMIM:252940 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus |
OMIM:146255 |
| Acquired Generalized Lipodystrophy |
|
Progeroid facial appearance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ov... |
ORPHA:79086 |
| Desmosterolosis |
|
Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita |
OMIM:602398 |
| Takayasu Arteritis |
|
Anemia, Weight loss |
ORPHA:3287 |
| Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Cavernous hemangioma, Hemangioma, Ascites |
OMIM:620244 |
| Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly... |
OMIM:253260 |
| Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability |
OMIM:300514 |
| Weaver Syndrome |
|
Deep-set nails, Thin nail, Cryptorchidism, Cutis laxa, Fine hair, Hydrocele testis, Sparse hair, ... |
OMIM:277590 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Progeroid facial appearance, Decreased nerve conduction velocity, Sensorineural hearing impairmen... |
OMIM:610651 |
| Johanson-Blizzard Syndrome |
|
Absent lacrimal punctum, Sparse scalp hair, Hepatomegaly, Increased VLDL cholesterol concentratio... |
OMIM:243800 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair |
OMIM:300986 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Posteriorly rotated ears, Absent eyelashes, Spleno... |
OMIM:115150 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Enla... |
ORPHA:79078 |
| Barber-Say Syndrome |
|
Aplasia/Hypoplasia of the skin, Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, ... |
ORPHA:1231 |
| Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... |
OMIM:608710 |
| Noonan Syndrome 10 |
|
Curly hair, Sparse eyebrow, Cryptorchidism, Low-set ears, Palmoplantar cutis laxa |
OMIM:616564 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
| Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin |
ORPHA:1114 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of hair texture, Splenomegaly, Lymphadenopathy, Anemia, Pallor, Optic nerve compressi... |
ORPHA:667 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatomegaly, Osteomyelitis leading to amputation due to slow healing fractures, Ascites |
OMIM:256810 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
| Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Optic disc coloboma, Fine ha... |
OMIM:234100 |
| Glycogen Storage Disease Xii |
|
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting |
OMIM:611881 |
| Arthrogryposis, Distal, Type 2A |
|
Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Kawasaki Disease |
|
Pericarditis, Abnormality of nail color, Skin rash, Edema, Myocarditis, Recurrent pharyngitis, He... |
ORPHA:2331 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gray matter heterotopia, Gonadal dys... |
OMIM:618820 |
| Familial Cutaneous Collagenoma |
|
Abnormality of skin pigmentation |
ORPHA:53296 |
| Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Papilloma, Conjunctiva... |
ORPHA:201 |
| Keutel Syndrome |
|
Pulmonary artery stenosis, Alopecia, Short stature, Dermal atrophy |
ORPHA:85202 |
| Pseudohypoparathyroidism Type 1C |
|
Ectopic ossification, Increased bone mineral density |
ORPHA:79444 |
| Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Weight loss, Basal cell carcinoma, Squamous cell carcinoma of the skin,... |
ORPHA:79430 |
| Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary... |
ORPHA:90003 |
| Fanconi Anemia, Complementation Group F |
|
Polyhydramnios, Pneumonia, Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
| Lynch Syndrome |
|
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... |
ORPHA:144 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Molluscoid pseudotumors, Thin skin |
OMIM:225400 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Skin erosion, Delayed puberty, Atypical scarring of skin, Growth delay, Anonyc... |
ORPHA:89842 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
| Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Cryptorchidism, Low-set ears, Fine hair |
OMIM:616202 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse eyelashes, Fine hair, Large earlobe, Low-set ears, Sparse hair |
OMIM:257850 |
| Wrinkly Skin Syndrome |
|
Cryptorchidism, Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins on trunk... |
ORPHA:2834 |
| Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Alopecia totalis, Small for gestational age, Short stature, Cryptorchidism, Grow... |
ORPHA:221016 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatic steatosis, Hepatomegaly, Spl... |
OMIM:615846 |
| Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Cryptorchidism, Coarse hair, Lo... |
OMIM:130720 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia |
ORPHA:67 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Aplasia cutis congenita, Absent fingernail, Neonatal death, Skin erosion, Anony... |
OMIM:609638 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Staphylococcal Necrotizing Pneumonia |
|
Diabetes mellitus, Neutrophilia, Leukocytosis, Leukopenia, Increased circulating procalcitonin co... |
ORPHA:36238 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci... |
ORPHA:65682 |
| Dubowitz Syndrome |
|
Sparse scalp hair, Aplastic anemia, Cryptorchidism, Lymphoma, Acute lymphoblastic leukemia, Neuro... |
OMIM:223370 |
| Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... |
OMIM:600901 |
| Addison Disease |
|
Normocytic anemia, Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular f... |
ORPHA:85138 |
| Cockayne Syndrome Type 2 |
|
Progeroid facial appearance, Cryptorchidism, Male hypogonadism, Macrotia, Hearing impairment |
ORPHA:90322 |
| Ciliary Dyskinesia, Primary, 1 |
|
Asplenia |
OMIM:244400 |
| African Trypanosomiasis |
|
Hepatomegaly, Alopecia, Erythematous macule, Abnormality of the menstrual cycle, Abnormality of t... |
ORPHA:3385 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Thin bony cortex |
OMIM:612731 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
| Mucopolysaccharidosis, Type Vii |
|
Splenomegaly, Sensorineural hearing impairment, Hirsutism, Coarse hair, Thick eyebrow, Hearing im... |
OMIM:253220 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Broad eyebrow, Neutrophilia, Small for gestational age, Microcytic anemia, Leukocyt... |
ORPHA:99843 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgG level, Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism,... |
OMIM:212065 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Widened atrophic scar, Atypical scarring of skin, Atrophic scars, Aortic dissection, Arterial dis... |
ORPHA:1900 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia, Widened atrophic scar, Sacral dimple, Diabetes mellitus, Carotid artery stenosis, Piezo... |
ORPHA:536532 |
| Fanconi Anemia, Complementation Group A |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... |
OMIM:227650 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... |
ORPHA:167 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating IgG level, Small for gestational age, Cryptorchidism, Decreased circulating... |
OMIM:607143 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness |
OMIM:277600 |
| Stiff Skin Syndrome |
|
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Short stature, Type II diabetes mellitus |
ORPHA:2833 |
| Foix-Alajouanine Syndrome |
|
Female sexual dysfunction, Male sexual dysfunction, Arteriovenous fistula, Venous malformation |
ORPHA:79093 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Epicanthus, Abnormal nasolacrimal system morphology, Edema, Abnormal eyelid morphol... |
ORPHA:2526 |
| Transketolase Deficiency |
|
Cataract, Conjunctivitis, Uveitis, Seborrheic dermatitis |
ORPHA:488618 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair |
OMIM:118650 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Increased circulating interleukin 6 concentration, Perianal abscess, Weight loss, Iron deficiency... |
OMIM:301074 |
| Shigellosis |
|
Pneumonia, Myocarditis, Peritonitis, Sepsis, Uveitis, Ulcerative colitis, Arthritis, Hypovolemic ... |
ORPHA:810 |
| Osteogenesis Imperfecta |
|
Osteopenia, Recurrent fractures, Fractures of the long bones, Osteoarthritis, Flexion contracture... |
ORPHA:666 |
| Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Cryptorchidism, Widow's peak, Low posterior hairline, Unilat... |
OMIM:304110 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Spleno... |
OMIM:181000 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia, Monoclona... |
ORPHA:33226 |
| Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Cryptorchidism, Fine hair, Low-set ears, Sparse hair, Decreased testicular size |
ORPHA:251028 |
| Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
| Mosaic Trisomy 9 |
|
Asplenia, Cryptorchidism, Abnormal liver lobulation, Small nail |
ORPHA:99776 |
| Lysinuric Protein Intolerance |
|
Thrombocytopenia, Splenomegaly, Cutis laxa, Fine hair, Leukopenia, Hemophagocytosis, Sparse hair,... |
OMIM:222700 |
| Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Fanconi Anemia, Complementation Group D2 |
|
Blepharophimosis, Leukemia, Chromosomal breakage induced by crosslinking agents, Deficient excisi... |
OMIM:227646 |
| Cutis Marmorata Telangiectatica Congenita |
|
Aplasia/Hypoplasia of the skin, Blue nevus, Skin erosion, Patent ductus arteriosus, Arterial sten... |
ORPHA:1556 |
| Fanconi Anemia, Complementation Group R |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism, Dry hair, Low anterior hairline |
OMIM:618569 |
| Right Atrial Isomerism |
|
Asplenia, Abdominal situs ambiguus, Polysplenia |
OMIM:208530 |
| Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
| Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin, Abnormality of the nail, Small nail |
ORPHA:384 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonge... |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prolonge... |
ORPHA:529808 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Menkes Disease |
|
Hypopigmentation of hair, Venous insufficiency, Arterial stenosis, Atypical scarring of skin, Int... |
ORPHA:565 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Weig... |
ORPHA:20 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly |
OMIM:249420 |
| Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Posteriorly rotated ears, Cryptorchidism, Loose anagen hair, Long ... |
OMIM:607721 |
| Ileal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron deficiency anemia, Small intestine c... |
ORPHA:100078 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... |
ORPHA:143 |
| Central Diabetes Insipidus |
|
Failure to thrive, Diabetes insipidus, Weight loss |
ORPHA:178029 |
| Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Myeloid leukemia, Failure to thrive in infancy, Micropenis, Central hy... |
ORPHA:798 |
| Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
| Listeriosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Unusual skin infection, Pneumonia, Pustule, Myocardit... |
ORPHA:533 |
| Spondyloocular Syndrome |
|
Osteopenia, Thin bony cortex |
OMIM:605822 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Paraganglioma, Weight loss |
ORPHA:94080 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality, Erectile dysfunction |
ORPHA:206448 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Thrombocytosis, Leukocytosis, Weight loss |
ORPHA:134 |
| Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:30925 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... |
ORPHA:1018 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
| Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
| Enlarged Parietal Foramina |
|
Abnormal cerebral vein morphology, Aplasia cutis congenita of scalp, Venous malformation |
ORPHA:60015 |
| American Trypanosomiasis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Recurrent to... |
ORPHA:171876 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Asplenia, Abdominal situs inversus, Polysplenia |
OMIM:605376 |
| Myotonic Dystrophy 2 |
|
Frontal balding, Decreased circulating total IgM, Hypogonadism, Type II diabetes mellitus, Elevat... |
OMIM:602668 |
| Mucolipidosis Type Ii |
|
Dry hair, Splenomegaly, Sensorineural hearing impairment, White hair, Fine hair, Hepatosplenomega... |
ORPHA:576 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Increased... |
ORPHA:17 |
| Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Abnormal pinna morphology, Conductive hearing impairment, Fine hair,... |
OMIM:164200 |
| Mucopolysaccharidosis Type 3 |
|
Mixed hearing impairment, Thick hair, Thickened helices, Abnormality of the middle ear ossicles, ... |
ORPHA:581 |
| Hypoadrenocorticism, Familial |
|
Abnormality of skin pigmentation |
OMIM:240200 |
| Cerebellar-Facial-Dental Syndrome |
|
Sparse eyebrow, Cryptorchidism, Fine hair, Low-set ears, Sparse hair |
ORPHA:444072 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis |
OMIM:249100 |
| Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Hypopigmentation of hair, Posteriorly rotated ears, Widow's peak, Coarse hair, Overfold... |
ORPHA:1974 |
| Monosomy 18Q |
|
Astrocytoma, Bilateral cryptorchidism, Hypothyroidism, Low anterior hairline, Failure to thrive, ... |
ORPHA:1600 |
| Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
| Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Aspiration pneumo... |
ORPHA:646 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss, Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
| Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Anasarca, Ascites |
OMIM:203700 |
| Chime Syndrome |
|
Erythema, Skin ulcer, Fine hair, Acute leukemia, Sparse hair, Hearing impairment |
ORPHA:3474 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Curly hair, Mixed hearing impairment, Abnormal fingernail morp... |
ORPHA:444077 |
| Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Entropion, Myocardial infarction, ... |
ORPHA:36426 |
| Weill-Marchesani Syndrome 2 |
|
Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex, Joint stiffness |
OMIM:608328 |
| Hajdu-Cheney Syndrome |
|
Abnormal fingernail morphology, Splenomegaly, Synophrys, Low anterior hairline, Skin ulcer, Coars... |
ORPHA:955 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Subcortical dementia, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose... |
OMIM:125310 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Prematurely aged appearance, Abnormal auditory evoked potentials, Optic neurop... |
ORPHA:909 |
| Giant Cell Arteritis |
|
Mediastinal lymphadenopathy, Alopecia, Diabetes insipidus, Weight loss |
ORPHA:397 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hepatomegaly, Alopecia, Sparse scalp hair, Postnatal growth retardation, Insulin-resistant diabet... |
OMIM:248370 |
| Scleromyxedema |
|
Abnormality of thyroid physiology, Abnormality of central nervous system electrophysiology, Gener... |
ORPHA:167635 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Cryptorchidism, Optic atrophy, Progeroid facial appearance |
OMIM:300578 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... |
ORPHA:913 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the you... |
OMIM:137920 |
| Al Amyloidosis |
|
Hepatomegaly, Howell-Jolly bodies, Weight loss, Abnormality of the liver, Increased circulating a... |
ORPHA:85443 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Sacral dimple, Aplasia/Hypoplasia of the skin, Hypospadias, Failure to... |
ORPHA:2556 |
| Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Lymphadenopathy, Increased circulating IgA level |
ORPHA:343 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss |
OMIM:143880 |
| Curry-Jones Syndrome |
|
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Generalized hirsutism |
ORPHA:1553 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of the thyroid gland, Cachexia |
ORPHA:1969 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
| Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Periorbital dermoid cyst, Conjunctivitis, Lacrimal duct stenosis |
OMIM:615560 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Sclerosis of skull base, Thin bony cortex |
OMIM:619727 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Long eyelashes, Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
| Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Weight loss |
ORPHA:312 |
| Von Willebrand Disease |
|
Venous insufficiency |
ORPHA:903 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Dry hair, Splenomegaly, Macrotia, Premature graying of hair, Adult onset senso... |
ORPHA:90324 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Uplifted earlobe, Conductive hearing impairment, Fine hair, Hydrocele test... |
OMIM:280000 |
| Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Failure to thrive, Weight loss |
ORPHA:79128 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
| Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Cryptorchid... |
OMIM:163950 |
| Saul-Wilson Syndrome |
|
Prominent superficial veins, Progeroid facial appearance, Sensorineural hearing impairment, Neutr... |
OMIM:618150 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
| Ménétrier Disease |
|
Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
| Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss |
ORPHA:3208 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Entropion, Sudden cardiac death, C... |
ORPHA:537 |
| Chand Syndrome |
|
Curly hair, Dry skin, Nail dysplasia |
ORPHA:1401 |
| Branchiooculofacial Syndrome |
|
Preauricular pit, Hypoplastic fingernail, Hypospadias, Supernumerary nipple, Postnatal growth ret... |
OMIM:113620 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Impaired T cell function |
OMIM:201100 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Weight loss |
ORPHA:324964 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... |
ORPHA:99880 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
| Rat-Bite Fever |
|
Lymphadenitis, Weight loss, Anemia, Pancreatitis, Parotitis |
ORPHA:31205 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
| Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Short stature, Cryptorchidism, Descending aortic dissection, Cystocele, Cigarette-paper scars, Ce... |
OMIM:130050 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Decreased circulatin... |
ORPHA:83617 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal hypoplasia, Sparse axillary hair... |
ORPHA:95409 |
| Graft Versus Host Disease |
|
Lymphadenopathy, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:39812 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Progeroid facial appearance, Sensorineural hearing impairment, Cutan... |
OMIM:615919 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
| Pseudoaminopterin Syndrome |
|
Sparse scalp hair, Highly arched eyebrow, Asplenia, Cryptorchidism, Frontal upsweep of hair |
ORPHA:221120 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Postnatal growth retardation, Synophrys, Attention deficit hyperactivity disorder,... |
OMIM:300966 |
| Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Orchitis, Jaundice, Neutrophilia in presence of infection, Lymphade... |
ORPHA:99826 |
| Pancreatoblastoma |
|
Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
| Thyroid Lymphoma |
|
Lymphadenopathy |
ORPHA:97285 |
| D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Epicanthus, Polyhydramnios, Fetal ascites, Splenomegaly, Upslanted palpebral fissur... |
OMIM:261515 |
| Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Prominent ear... |
ORPHA:96149 |
| Occipital Horn Syndrome |
|
Orthostatic hypotension, Redundant skin, Coarse hair, Bruising susceptibility, Pili torti |
OMIM:304150 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
| Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma |
ORPHA:220460 |
| Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Hepatomegaly, Splenomegaly, Loss of eyelashes, Conjunctivitis, Elevated... |
OMIM:263700 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut... |
OMIM:123700 |
| Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Pancreatic cysts, Ovarian cyst, Low-set ears, Sparse hair, Hearing impairment |
OMIM:311200 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Synophrys, Hypoplastic sweat glands, EEG abnormality, Thick eyebrow |
ORPHA:73223 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Asplenia |
OMIM:619657 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Asplenia, Hypoplastic toenails, Biliary atresia, Abdominal situs inversus, Polysple... |
OMIM:306955 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Synophrys, Facial erythema, Scaling skin, ... |
OMIM:619503 |
| Malignant Atrophic Papulosis |
|
Peritonitis, Weight loss, Ischemic stroke, Dermal atrophy, Arteritis, Papule |
ORPHA:679 |
| Feingold Syndrome 1 |
|
Asplenia, Annular pancreas, Polysplenia, Accessory spleen |
OMIM:164280 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Prematurely aged appearance |
ORPHA:1318 |
| De Sanctis-Cacchione Syndrome |
|
Severe short stature, Hypermelanotic macule, Bilateral cryptorchidism, Gonadal hypoplasia, Dermal... |
OMIM:278800 |
| Trisomy 10P |
|
Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst... |
ORPHA:171929 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Distichiasis, Peripheral arterial stenosis |
OMIM:126320 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Hyperthyroidism, Weight loss |
OMIM:188580 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Mediastinal lymphadenopathy, Leukocytosis, Hilar lymph node enlargement |
OMIM:620233 |
| Generalized Arterial Calcification Of Infancy |
|
Polyhydramnios, Edema, Pericardial effusion, Hydrops fetalis, Hypophosphatemic rickets, Ascites |
ORPHA:51608 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Highly arched eyebrow, Synophrys, Decreased circulating antibody... |
OMIM:617062 |
| Polymyositis |
|
Hepatomegaly, Breast carcinoma, Weight loss |
ORPHA:732 |
| Loeys-Dietz Syndrome 6 |
|
Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dilatation of the cerebral a... |
OMIM:619656 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal... |
ORPHA:29072 |
| Interstitial Cystitis |
|
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... |
ORPHA:37202 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Secondary Short Bowel Syndrome |
|
Cholestasis, Central hypothyroidism, Weight loss, Primary hypothyroidism, Failure to thrive |
ORPHA:95427 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocyt... |
ORPHA:276621 |
| Reynolds Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia |
OMIM:613471 |
| Primrose Syndrome |
|
Sparse scalp hair, Absent facial hair, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Absen... |
OMIM:259050 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Asplenia, Cryptorchidism, Pancreatic cysts, Congenital hep... |
ORPHA:564 |
| Costello Syndrome |
|
Deep-set nails, Curly hair, Redundant neck skin, Posteriorly rotated ears, Thin nail, Concave nai... |
OMIM:218040 |
| Occipital Horn Syndrome |
|
Thick hair, Venous insufficiency, Jaundice, Hepatitis, Cholestasis, Atypical scarring of skin, Co... |
ORPHA:198 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Low-set, posteriorly rotated ears, Sparse scalp hair, Hyperparathyroidism, Cryptorchidism, Skin u... |
ORPHA:534 |
| Oculoectodermal Syndrome |
|
Epidermal nevus, Transient ischemic attack, Supernumerary nipple, Aplasia cutis congenita, Patent... |
OMIM:600268 |
| Aspartylglucosaminuria |
|
Arthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:93 |
| Coffin-Lowry Syndrome |
|
Cutis marmorata, Highly arched eyebrow, Sensorineural hearing impairment, Cutis laxa, Hyperconvex... |
OMIM:303600 |
| Norrie Disease |
|
Diabetes mellitus, Cachexia, Cryptorchidism, Delayed puberty, Neoplasm of the eye, Failure to thr... |
ORPHA:649 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... |
ORPHA:103918 |
| Glomuvenous Malformation |
|
Venous malformation, Skin nodule, Localized skin lesion, Gastrointestinal arteriovenous malformat... |
ORPHA:83454 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Aicardi Syndrome |
|
Precocious puberty, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemangi... |
OMIM:304050 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Microphthalmia With Limb Anomalies |
|
Abnormal eyebrow morphology, Short stature, Venous insufficiency, Cryptorchidism, Failure to thrive |
ORPHA:1106 |
| Stickler Syndrome |
|
Slender build, Cachexia |
ORPHA:828 |
| Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Aplasia/Hypoplasia of the skin, Hypospadias, Epispadias, Growth delay,... |
ORPHA:3339 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Varicose veins, Atrophic scars, Aortic dissection, Polymicrogyria, Vas... |
OMIM:618343 |
| Myhre Syndrome |
|
Cryptorchidism, Fine hair, Microtia, Low-set ears, Sparse hair, Thick eyebrow, Hearing impairment |
OMIM:139210 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Adrenal hypoplasia, Malformation of the hepatic ductal plate, Asplenia, Splenom... |
OMIM:249000 |
| Leptospirosis |
|
Pericarditis, Skin rash, First degree atrioventricular block, Hepatitis, Uveitis, Retinal hemorrh... |
ORPHA:509 |
| Williams Syndrome |
|
Osteopenia, Joint laxity, Increased bone mineral density, Joint stiffness, Osteoporosis, Joint hy... |
ORPHA:904 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Short stature, Ovotestis, Asymmetric, linear skin defects, Hypopla... |
OMIM:309801 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
ORPHA:536 |
| Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
| Branchioskeletogenital Syndrome |
|
Attached earlobe, Mixed hearing impairment, Absent nipple, Highly arched eyebrow, Synophrys, Larg... |
ORPHA:1299 |
| Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
| Scimitar Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Descending aorta hypoplasia, ... |
ORPHA:185 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina |
ORPHA:2237 |
| Glossopharyngeal Neuralgia |
|
Schwannoma, Neoplasm, Weight loss |
ORPHA:221098 |
| Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Dry hair, Cutis marmorata, Abnormal pinna morphology, Hearing impairment, Post... |
OMIM:135900 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Obesity, Decreased circulating total IgM, Decreased circu... |
ORPHA:369837 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Bruising susceptibility, Progeroid facial appearance |
OMIM:616914 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones |
OMIM:269150 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ... |
ORPHA:79480 |
| Cystinosis, Nephropathic |
|
Hepatomegaly, Hypopigmentation of hair, Diabetes mellitus, Failure to thrive in infancy, Splenome... |
OMIM:219800 |
| Faundes-Banka Syndrome |
|
Sparse scalp hair, Epicanthus, Fetal ascites, Hypoplastic toenails, Hypoplasia of the lower eyeli... |
OMIM:619376 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Weight loss |
ORPHA:330001 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
| Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Microtia, Low-set... |
OMIM:210710 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Paraganglioma, Weight loss |
ORPHA:97286 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Adrenal gland agenesis |
OMIM:273395 |
| Zttk Syndrome |
|
Curly hair, Absent gallbladder, Sparse eyebrow, Optic atrophy, Protruding ear, Low-set ears, Broa... |
OMIM:617140 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Thickened cortex of long bones |
ORPHA:488434 |
| Melnick-Needles Syndrome |
|
Coarse hair, Macrotia, Frontal hirsutism |
OMIM:309350 |
| Behçet Disease |
|
Orchitis, Splenomegaly, Weight loss, Lymphadenopathy, Pancreatitis |
ORPHA:117 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Mend Syndrome |
|
Cryptorchidism, Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Osteopetrosis |
ORPHA:2785 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Weight loss |
ORPHA:92050 |
| Autosomal Dominant Spastic Paraplegia Type 10 |
|
Varicose veins, Cognitive impairment |
ORPHA:100991 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
| 8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Obesity, Weight loss |
ORPHA:251071 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM, Annular pancreas, Decreased serum insulin-like growth factor 1 |
OMIM:618162 |
| Kindler Epidermolysis Bullosa |
|
Aplasia/Hypoplasia of the skin, Phimosis, Atypical scarring of skin, Abnormal toenail morphology,... |
ORPHA:2908 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Annular pancreas, Pulmonary lymphangiectasia |
OMIM:265380 |
| Yao Syndrome |
|
Weight loss |
OMIM:617321 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Schwannoma, Ossifying fibroma, Granuloma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutane... |
ORPHA:363700 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Hashimoto thyroiditis, Hydrocele testis, Weight loss |
ORPHA:49041 |
| Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Leukocytosis... |
ORPHA:99829 |
| Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Iron deficiency anemia, Diabetic ketoacidosis, Varic... |
ORPHA:358 |
| Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
| Pulmonary Capillary Hemangiomatosis |
|
Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
| Classical Ehlers-Danlos Syndrome |
|
Striae distensae, Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Ecchy... |
ORPHA:287 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
| Granulomatosis With Polyangiitis |
|
Weight loss, Granulomatosis, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, ... |
ORPHA:900 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Asymmetric, linear skin defects, Failure to thrive, Thyroid C cell hyperplasia |
OMIM:300952 |
| Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Unilateral cryptorchidism, Hyperconvex nail, Uplifted earlobe, Dec... |
OMIM:613406 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Asplenia, Abdominal situs ambiguus, Abdominal situs inversus |
OMIM:270100 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Niemann-Pick Disease, Type C2 |
|
Splenomegaly, Hepatomegaly, Fetal ascites, Polyhydramnios |
OMIM:607625 |
| Thoracic Outlet Syndrome |
|
Varicose veins |
ORPHA:97330 |
| Postinfectious Vasculitis |
|
Viral hepatitis, Increased circulating IgA level, Orchitis, Weight loss, Abnormality of humoral i... |
ORPHA:48435 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Hypoplasia of the lacrimal punct... |
OMIM:149730 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Exocrine pancreatic insufficiency, Weight loss |
ORPHA:309031 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
| Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:95626 |
| Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
| Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
| Niemann-Pick Disease, Type C1 |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:257220 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Low-set, posteriorly rotated ears, Curly hair, Abnormal circulating thyroid hormone concentration... |
ORPHA:480880 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Thoracic aortic aneurysm, Subarachnoid hemorrhage, Arterial tortuosit... |
OMIM:613795 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Curly hair, Absent gallbladder, Optic nerve hypoplasia, Sparse eyebrow, Optic atrophy, Protruding... |
ORPHA:500150 |
| Varicose Veins |
|
Varicose veins |
OMIM:192200 |
| Juvenile Dermatomyositis |
|
Alopecia, Weight loss |
ORPHA:93672 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Weight loss, Increased circulating IgG level, Normochromic anemia, Increased c... |
ORPHA:91500 |
| Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
| Thauvin-Robinet-Faivre Syndrome |
|
Varicose veins, Transient neutropenia, Large for gestational age |
OMIM:617107 |
| Choreoacanthocytosis |
|
Hepatomegaly, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Weight loss |
ORPHA:2388 |
| Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation |
OMIM:613089 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormality of the hepatic vasculature, Abnormal vena cava morphology, Atrial septa... |
ORPHA:1677 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Varicose veins, Transient neutropenia, Chronic neutropenia, Large for gestational age |
ORPHA:500095 |
| Keppen-Lubinsky Syndrome |
|
Decreased serum leptin, Lack of facial subcutaneous fat, Progeroid facial appearance |
OMIM:614098 |
| Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Cryptorchidism, Decreased circulating antibody level, Hydrocele testis, Failure to thri... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Asplenia, Cryptorchidism, Decreased circulating antibody level, Hydrocele testis, Horizontal eyeb... |
ORPHA:2152 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Pancreatic hypoplas... |
ORPHA:99885 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Highly arched eyebrow, Asplenia, Cryptorchidism, Decreased circulating antibody level, Hydrocele ... |
ORPHA:261552 |
| Baller-Gerold Syndrome |
|
Severe short stature, Short stature, Anomalous splenoportal venous system, Perineal fistula, Rect... |
OMIM:218600 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... |
OMIM:618280 |
| Kindler Syndrome |
|
Ridged nail, Phimosis, Spotty hypopigmentation, Dermal atrophy, Diffuse skin atrophy |
OMIM:173650 |
| Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
| Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
| Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
| Blau Syndrome |
|
Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:90340 |
| Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
| Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Testicular microlithiasis, Weight loss |
ORPHA:60025 |
| 17Q11 Microdeletion Syndrome |
|
Osteopenia, Thickened cortex of long bones, Osteolysis, Osteoporosis |
ORPHA:97685 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Cryptorchidism, Hypospadias, Aplasia of the uterus |
OMIM:194190 |
| Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage, Cognitive impairment |
ORPHA:221061 |
| Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Hypospadias, Bifid uterus |
OMIM:236680 |
| Congenital Tracheal Stenosis |
|
Fetal ascites, Polyhydramnios, Oligohydramnios |
ORPHA:141127 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
| Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Bifid uterus |
OMIM:256520 |
| Okamoto Syndrome |
|
Bifid uterus |
ORPHA:2729 |
| Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
| Goodpasture Syndrome |
|
Anemia, Weight loss |
OMIM:233450 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
| Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Aplasia of the upper vagina... |
OMIM:601803 |
