Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Intellectual Developmental Disorder, X-Linked 96 |
|
Seizure |
OMIM:300802 |
Mental Retardation, Autosomal Dominant 3 |
|
Seizure |
OMIM:612580 |
Mental Retardation, Autosomal Dominant 41 |
|
Seizure |
OMIM:616944 |
Glycosylphosphatidylinositol Biosynthesis Defect 16 |
|
Seizure |
OMIM:617816 |
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization |
|
Seizure |
OMIM:618113 |
15q13.3 microdeletion syndrome |
|
Seizure |
DECIPHER:74 |
Epilepsy, Nocturnal Frontal Lobe, 3 |
|
Seizure |
OMIM:605375 |
Autism, Susceptibility To, X-Linked 6 |
|
Seizure |
OMIM:300872 |
Intellectual Developmental Disorder, Autosomal Recessive 52 |
|
Seizure |
OMIM:616887 |
Mental Retardation, Autosomal Dominant 2 |
|
Seizure |
OMIM:614113 |
Kifafa Seizure Disorder |
|
Seizure |
OMIM:245180 |
Mental Retardation, X-Linked 88 |
|
Seizure |
OMIM:300852 |
Mental Retardation, Autosomal Recessive 10 |
|
Seizure |
OMIM:611096 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Epilepsy, Nocturnal Frontal Lobe, 1 |
|
Seizure, Focal-onset seizure |
OMIM:600513 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Immunodeficiency 51 |
|
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Recurrent bronchitis, Chronic ora... |
OMIM:613953 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Micropenis, Anosmia, Hyposmia |
OMIM:614897 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Micropenis, Anosmia, Hyposmia |
OMIM:614838 |
Dermoid Cysts, Familial Frontonasal |
|
Nasal congestion, Anosmia, Wide nasal bridge, Deviated nasal septum |
OMIM:600679 |
Paroxysmal Extreme Pain Disorder |
|
Seizure |
ORPHA:46348 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Micropenis, Anosmia, Hyposmia |
OMIM:612702 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia, Hyposmia |
OMIM:615267 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Body Mass Index Quantitative Trait Locus 19 |
|
Anosmia, Hyposmia |
OMIM:617885 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Anosmia, Short nose, Depressed nasal bridge, Short nasal septum |
OMIM:302950 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Micropenis, Anosmia |
OMIM:616030 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome |
|
Anosmia, Depressed nasal bridge |
OMIM:113480 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia |
OMIM:614839 |
Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Micropenis, Anosmia, Unilateral renal agenesis |
OMIM:244200 |
Freesia Flowers, Inability To Smell |
|
Specific anosmia |
OMIM:229250 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Micropenis, Anosmia |
OMIM:610628 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Urinary incontinence, Anosmia, Hyposmia |
OMIM:243000 |
Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopapular exanthema, Crusti... |
ORPHA:79147 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia |
OMIM:612370 |
Bardet-Biedl Syndrome 17 |
|
Renal cyst, Stage 5 chronic kidney disease, Micropenis, Polyuria, Anosmia, Hyposmia |
OMIM:615994 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus |
ORPHA:330064 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Peroxisome Biogenesis Disorder 9B |
|
Anosmia |
OMIM:614879 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Micropenis, Anosmia |
OMIM:614837 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Micropenis, Anosmia, Choanal atresia |
OMIM:147950 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Hyposmia |
OMIM:615996 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Anosmia, Hyposmia |
OMIM:608720 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge |
OMIM:210745 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... |
ORPHA:499 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Short nose, Anosmia, Hypoplasia of penis, Abnormality of the nares |
ORPHA:1295 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Bronchiectasis, Chronic otitis media, Chronic rhinitis, Recurrent bro... |
OMIM:244400 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia |
ORPHA:2057 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Anosmia |
OMIM:601152 |
Refsum Disease, Classic |
|
Abnormal renal physiology, Anosmia |
OMIM:266500 |
Johnson Neuroectodermal Syndrome |
|
Micropenis, Anosmia, Choanal stenosis |
OMIM:147770 |
Pityriasis Rubra Pilaris |
|
Pruritus, Eczema, Erythroderma, Pustule |
ORPHA:2897 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Micropenis, Anosmia |
OMIM:618841 |
Solitary Median Maxillary Central Incisor |
|
Midnasal stenosis, Pyriform aperture stenosis, Abnormal nasopharynx morphology, Choanal atresia, ... |
OMIM:147250 |
Johnson Neuroectodermal Syndrome |
|
Anosmia, Choanal atresia, Bulbous nose |
ORPHA:2316 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Congenital Hypothyroidism |
|
Sinusitis, Depressed nasal ridge, Anosmia, Nephrolithiasis |
ORPHA:442 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Micropenis, Anosmia, Hyposmia, Unilateral renal agenesis |
OMIM:308700 |
Refsum Disease |
|
Anosmia, Renal insufficiency |
ORPHA:773 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Micropenis, Anosmia |
OMIM:614841 |
Kufor-Rakeb Syndrome |
|
Anosmia, Hyposmia |
OMIM:606693 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia |
ORPHA:1135 |
Kallmann Syndrome With Spastic Paraplegia |
|
Micropenis, Anosmia, Unilateral renal agenesis |
OMIM:308750 |
Immunodeficiency 58 |
|
Eczema, Allergic rhinitis, Recurrent cutaneous abscess formation, Chronic otitis media, Seborrhei... |
OMIM:618131 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Hypospadias, Micropenis, Erythroderma |
OMIM:618840 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Erythroderma |
ORPHA:280785 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... |
ORPHA:139402 |
Ichthyosis Prematurity Syndrome |
|
Pruritus, Allergic rhinitis, Erythroderma |
OMIM:608649 |
Kallmann Syndrome |
|
Anosmia, Micropenis, Hypoplasia of penis, Hyposmia |
ORPHA:478 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Erythroderma, Pneumonia, Chronic oral candidiasis, Hepatitis, Otitis media, Recurrent pneumonia |
ORPHA:169160 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
Septo-Optic Dysplasia Spectrum |
|
Anosmia, Hypoplasia of penis |
ORPHA:3157 |
Holoprosencephaly |
|
Depressed nasal ridge, Hypoplasia of penis, Aplasia/Hypoplasia involving the nose, Absent nares, ... |
ORPHA:2162 |
Netherton Syndrome |
|
Eczema, Hydronephrosis, Erythroderma, Skin rash, Ectopic kidney, Aminoaciduria |
ORPHA:634 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Pruritus, Erythroderma, Keratitis |
ORPHA:79394 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Erythroderma, Pustule |
OMIM:614328 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Anosmia, Absent brainstem auditory responses, Decreased nerve conduction velocity |
OMIM:609136 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Partial anosmia, Micropenis, Total anosmia |
ORPHA:2326 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Absent nares, Anosmia, Hyposmia, Single naris |
ORPHA:2250 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
Ichthyosis With Confetti |
|
Erythroderma |
OMIM:609165 |
Lamellar Ichthyosis |
|
Chronic otitis media, Pruritus, Erythroderma, Renal insufficiency |
ORPHA:313 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
Huntington Disease |
|
Abnormality of the sense of smell |
ORPHA:399 |
8P11.2 Deletion Syndrome |
|
Anosmia, Hypoplasia of penis, Depressed nasal bridge |
ORPHA:251066 |
Epidermolytic Hyperkeratosis |
|
Erythroderma |
OMIM:113800 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hyposmia |
OMIM:613724 |
Gorlin Syndrome |
|
Abnormality of the sense of smell, Wide nasal bridge |
ORPHA:377 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Erythroderma, Chronic oral candidiasis, Concave nasal ridge, Thy... |
OMIM:606367 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Erythroderma, Punctate keratitis |
OMIM:602540 |
Omenn Syndrome |
|
Erythroderma, Nephrotic syndrome, Pneumonia, Pruritus, Thyroiditis |
ORPHA:39041 |
Harlequin Ichthyosis |
|
Depressed nasal ridge, Erythroderma |
ORPHA:457 |
Marcus-Gunn Syndrome |
|
Abnormality of the sense of smell, Choanal atresia, Nephrolithiasis |
ORPHA:91412 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Erythroderma, Pustule, Pruritus, Crusting erythematous dermatitis |
ORPHA:79481 |
Trichothiodystrophy 3, Photosensitive |
|
Erythroderma |
OMIM:616395 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Infectious encephalitis, Erythroderma, Abnormal renal physiology, Maculopapular exanthema, Skin r... |
ORPHA:540 |
Corneodermatoosseous Syndrome |
|
Erythroderma |
OMIM:122440 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma |
ORPHA:1954 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Erythroderma, Hepatitis, Arthritis, Glomerulonephritis |
OMIM:304790 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Skin rash |
ORPHA:90280 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Eczema, Erythroderma |
OMIM:619510 |
8Q21.11 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Eczema, Wide nose, Abnormality of the sense of smell, Hypoplasia of penis |
ORPHA:284160 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma |
ORPHA:312 |
Epidermodysplasia Verruciformis |
|
Seborrheic dermatitis, Recurrent skin infections, Pustule |
ORPHA:302 |
Superficial Siderosis |
|
Partial anosmia, Functional abnormality of the bladder, Anosmia |
ORPHA:247245 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Abnormality of the sense of smell |
ORPHA:3201 |
Netherton Syndrome |
|
Allergic rhinitis, Erythroderma |
OMIM:256500 |
Sézary Syndrome |
|
Pruritus, Erythroderma |
ORPHA:3162 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypospadias, Aplasia of the nose, Micropenis, Choanal atresia, Anosmia |
OMIM:603457 |
Immunodeficiency 25 |
|
Recurrent pneumonia, Erythroderma |
OMIM:610163 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma |
OMIM:242300 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Erythroderma, Conjunctivitis |
OMIM:242150 |
Waardenburg Syndrome, Type 2E |
|
Anosmia |
OMIM:611584 |
Congenital Disorder Of Glycosylation, Type If |
|
Erythroderma |
OMIM:609180 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Erythroderma |
OMIM:615508 |
Hyperostosis Cranialis Interna |
|
Hyposmia |
OMIM:144755 |
Omenn Syndrome |
|
Erythroderma, Pneumonia |
OMIM:603554 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis, Erythroderma, Depressed nasal bridge |
ORPHA:35173 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Erythroderma, Keratitis |
OMIM:308205 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Prominent nose, Broad nasal tip, Erythroderma, Depressed nasal bridge |
OMIM:617425 |
Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
Diffuse Cutaneous Mastocytosis |
|
Pruritus, Erythroderma |
ORPHA:79456 |
Bathing Suit Ichthyosis |
|
Erythroderma |
ORPHA:100976 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Hydronephrosis, Erythroderma, Concave nasal ridge |
OMIM:302960 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent upper respiratory tract infections, Erythroderma |
ORPHA:169154 |
Hydrolethalus |
|
Abnormality of the sense of smell |
ORPHA:2189 |
Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma |
OMIM:604777 |
Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Blepharitis |
OMIM:615527 |
Benign Schwannoma |
|
Allodynia, Nasal polyposis, Abnormality of peripheral nervous system electrophysiology |
ORPHA:252164 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Seborrheic dermatitis, Acne |
OMIM:614441 |
Lacrimoauriculodentodigital Syndrome |
|
Keratoconjunctivitis sicca, Renal hypoplasia, Hydronephrosis, Arthritis, Anosmia, Vesicoureteral ... |
ORPHA:2363 |
Charge Syndrome |
|
Horseshoe kidney, Hydronephrosis, Depressed nasal bridge, Micropenis, Vesicoureteral reflux, Choa... |
ORPHA:138 |
Campomelic Dysplasia |
|
Abnormality of the sense of smell, Hydronephrosis, Depressed nasal bridge |
ORPHA:140 |
Biotinidase Deficiency |
|
Seborrheic dermatitis, Recurrent skin infections, Skin rash, Organic aciduria, Conjunctivitis |
OMIM:253260 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Seborrheic dermatitis, Elevated urinary prostaglandin E2 level, Acne |
OMIM:167100 |
Waardenburg Syndrome, Type 4C |
|
Anosmia |
OMIM:613266 |
Ichthyosis And Male Hypogonadism |
|
Anosmia |
OMIM:308200 |
Transketolase Deficiency |
|
Seborrheic dermatitis, Renal cyst, Uveitis, Increased level of ribose in urine, Conjunctivitis |
ORPHA:488618 |
Trigeminal Neuralgia |
|
Allodynia |
ORPHA:221091 |
Trichothiodystrophy 1, Photosensitive |
|
Keratoconjunctivitis sicca, Erythroderma |
OMIM:601675 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Erythroderma |
OMIM:612281 |
Acro-Renal-Mandibular Syndrome |
|
Abnormality of the sense of smell |
ORPHA:958 |
Neurotrophic Keratopathy |
|
Allodynia, Anterior uveitis |
ORPHA:137596 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia |
ORPHA:51890 |
Copper Deficiency, Familial Benign |
|
Seborrheic dermatitis |
OMIM:121270 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Erythroderma, Pruritus, Arthritis, Pan... |
ORPHA:3260 |
Pachydermoperiostosis |
|
Eczematoid dermatitis, Seborrheic dermatitis, Acne, Arthritis, Osteomyelitis |
ORPHA:2796 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Seborrheic dermatitis, Hyperglycinuria, Organic aciduria, Ketonuria |
OMIM:210210 |
Ameloonychohypohidrotic Syndrome |
|
Seborrheic dermatitis |
OMIM:104570 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Seborrheic dermatitis, Eczematoid dermatitis, Arthritis |
OMIM:259100 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Unusual skin infection, Infectious encephalitis, Pneumonia, Pustule, Hyposmia |
ORPHA:68 |
Parkinson Disease 8, Autosomal Dominant |
|
Hyposmia |
OMIM:607060 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Stomatitis |
OMIM:246400 |
Moebius Syndrome |
|
Abnormality of the sense of smell, Blepharitis |
ORPHA:570 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Depressed nasal bridge, Seborrheic dermatitis, Hypsarrhythmia, Micropenis, Vesicoureteral reflux,... |
OMIM:300868 |
Yao Syndrome |
|
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Arthritis, Nephro... |
OMIM:617321 |
Young-Onset Parkinson Disease |
|
Hyposmia |
ORPHA:2828 |
Charge Syndrome |
|
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Micropenis, Choanal atresia, Anosmia |
OMIM:214800 |
Monosomy 22 |
|
Seborrheic dermatitis, Wide nose, Micropenis, Prominent nasolabial fold |
ORPHA:96123 |
Trichothiodystrophy |
|
Keratoconjunctivitis sicca, Eczema, Congenital exfoliative erythroderma, Conjunctivitis |
ORPHA:33364 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Seborrheic dermatitis, Enuresis, Eczema, Convex nasal ridge |
ORPHA:369950 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Underdeveloped nasal alae, Eczema, Hydronephrosis, Superficial dermal perivascular inflammatory i... |
ORPHA:83617 |
Hereditary Late-Onset Parkinson Disease |
|
Spastic/hyperactive bladder, Hyposmia |
ORPHA:411602 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Hydronephrosis, Pelvic kidney, Micropenis, Vesicoureteral reflux, Hyposmia |
OMIM:618653 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Renal hypoplasia, Chronic otitis media, Seborrheic dermatitis, Acne, Arthritis, Wide... |
ORPHA:567 |
Occipital Horn Syndrome |
|
Abnormality of the sense of smell, Hepatitis, Bladder diverticulum, Esophagitis |
ORPHA:198 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Abnormal inflammatory response, Pustule, Synovitis, Acne, O... |
ORPHA:77297 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis |
ORPHA:79099 |
Leopard Syndrome 1 |
|
Hypospadias, Depressed nasal ridge, Micropenis, Unilateral renal agenesis, Hyposmia |
OMIM:151100 |
Thrombocytopenia-Absent Radius Syndrome |
|
Seborrheic dermatitis, Horseshoe kidney, Anteverted nares |
OMIM:274000 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
ORPHA:36387 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Eczematoid dermatitis, Eczema, Psoriasiform dermatitis, Tub... |
ORPHA:37042 |
Meningioma |
|
Abnormality of the sense of smell, Urinary incontinence |
ORPHA:2495 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Nasal chondritis, Chondritis of pinna, Neutrophilic infiltr... |
OMIM:301054 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis, Enlarged kidney |
ORPHA:276280 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Arthritis, Acut... |
ORPHA:39812 |
Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Chronic kidney disease, Inflammatory abnormality of the skin, Peric... |
ORPHA:449395 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary urgency, Urinary hesi... |
ORPHA:556 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Pruritus, Stage 5 chronic kidney disease, Recurrent skin in... |
ORPHA:94059 |
Digeorge Syndrome |
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Seborrheic dermatitis, Hydronephrosis, Acne, Unilateral renal agenesis |
OMIM:188400 |
Dravet Syndrome |
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Generalized clonic seizure, Focal hemiclonic seizure, Photosensitive myoclonic seizure, Febrile s... |
ORPHA:33069 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Inflammatory abnormality of the skin, Eczema, Infectious encephalitis, Bronchiectasis, Renovascul... |
ORPHA:391487 |
Progressive Supranuclear Palsy |
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Abnormal synaptic transmission |
ORPHA:683 |
Primary Erythromelalgia |
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Pruritus |
ORPHA:90026 |
Erythermalgia, Primary |
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Keratoconjunctivitis sicca, Pruritus |
OMIM:133020 |
Paroxysmal Extreme Pain Disorder |
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OMIM:167400 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
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ORPHA:970 |